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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: 13-113181188-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113181188&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113181188,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001320656.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "NM_001127202.4",
"protein_id": "NP_001120674.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 399,
"cds_start": 728,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337344.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127202.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "ENST00000337344.9",
"protein_id": "ENSP00000337405.4",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 399,
"cds_start": 728,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127202.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337344.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "ENST00000375477.5",
"protein_id": "ENSP00000364626.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 399,
"cds_start": 728,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375477.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "ENST00000375479.6",
"protein_id": "ENSP00000364628.2",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 399,
"cds_start": 728,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375479.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Ser241Cys",
"transcript": "ENST00000375457.2",
"protein_id": "ENSP00000364606.2",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 397,
"cds_start": 722,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375457.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Ser241Cys",
"transcript": "ENST00000375459.5",
"protein_id": "ENSP00000364608.1",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 397,
"cds_start": 722,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375459.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ser297Cys",
"transcript": "NM_001320656.2",
"protein_id": "NP_001307585.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 453,
"cds_start": 890,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320656.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ser297Cys",
"transcript": "ENST00000246505.9",
"protein_id": "ENSP00000246505.5",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 453,
"cds_start": 890,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246505.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ser297Cys",
"transcript": "ENST00000622406.4",
"protein_id": "ENSP00000479494.1",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 453,
"cds_start": 890,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622406.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ser297Cys",
"transcript": "ENST00000925339.1",
"protein_id": "ENSP00000595398.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 453,
"cds_start": 890,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925339.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "NM_001320657.2",
"protein_id": "NP_001307586.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 432,
"cds_start": 728,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320657.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Ser241Cys",
"transcript": "NM_001320660.2",
"protein_id": "NP_001307589.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 430,
"cds_start": 722,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320660.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "NM_001320659.2",
"protein_id": "NP_001307588.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 410,
"cds_start": 728,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320659.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "NM_001127203.4",
"protein_id": "NP_001120675.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 399,
"cds_start": 728,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127203.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "NM_018386.5",
"protein_id": "NP_060856.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 399,
"cds_start": 728,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018386.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Ser241Cys",
"transcript": "NM_001258213.3",
"protein_id": "NP_001245142.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 397,
"cds_start": 722,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258213.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Ser241Cys",
"transcript": "NM_001320655.2",
"protein_id": "NP_001307584.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 397,
"cds_start": 722,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320655.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Ser241Cys",
"transcript": "NM_001353092.2",
"protein_id": "NP_001340021.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 397,
"cds_start": 722,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353092.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Ser243Cys",
"transcript": "ENST00000952597.1",
"protein_id": "ENSP00000622656.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 388,
"cds_start": 728,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952597.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.638C>G",
"hgvs_p": "p.Ser213Cys",
"transcript": "ENST00000952598.1",
"protein_id": "ENSP00000622657.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 369,
"cds_start": 638,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952598.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"transcript": "ENST00000952599.1",
"protein_id": "ENSP00000622658.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 362,
"cds_start": 617,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952599.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.602C>G",
"hgvs_p": "p.Ser201Cys",
"transcript": "NM_001353091.2",
"protein_id": "NP_001340020.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 357,
"cds_start": 602,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353091.2"
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"phenotype_combined": "not specified",
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}
],
"message": null
}