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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: 19-11575174-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11575174&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11575174,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000648477.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001611.5",
"protein_id": "NP_001602.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": "ENST00000648477.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000648477.1",
"protein_id": "ENSP00000496973.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": "NM_001611.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000218758.10",
"protein_id": "ENSP00000218758.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001111034.3",
"protein_id": "NP_001104504.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001111035.3",
"protein_id": "NP_001104505.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001111036.3",
"protein_id": "NP_001104506.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001322023.2",
"protein_id": "NP_001308952.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001439233.1",
"protein_id": "NP_001426162.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001439234.1",
"protein_id": "NP_001426163.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001439235.1",
"protein_id": "NP_001426164.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001439236.1",
"protein_id": "NP_001426165.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000412435.7",
"protein_id": "ENSP00000392374.1",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000589792.6",
"protein_id": "ENSP00000468685.2",
"transcript_support_level": 3,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000590832.2",
"protein_id": "ENSP00000465127.2",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
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"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000591319.2",
"protein_id": "ENSP00000464831.2",
"transcript_support_level": 3,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000592659.2",
"protein_id": "ENSP00000465498.2",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
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"cdna_start": 1600,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000592828.7",
"protein_id": "ENSP00000468767.3",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000649386.2",
"protein_id": "ENSP00000497140.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000695791.1",
"protein_id": "ENSP00000512173.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
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"cdna_start": 1103,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000695811.1",
"protein_id": "ENSP00000512191.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 325,
"cds_start": 814,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000695809.1",
"protein_id": "ENSP00000512189.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 324,
"cds_start": 811,
"cds_end": null,
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"cdna_start": 1196,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000695813.1",
"protein_id": "ENSP00000512192.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 324,
"cds_start": 811,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000695815.1",
"protein_id": "ENSP00000512194.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 324,
"cds_start": 811,
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{
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:3",
"phenotype_combined": "not specified|not provided|Spondyloenchondrodysplasia with immune dysregulation|ACP5-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}