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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: 7-6580587-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6580587&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6580587,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001371292.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001134389.2",
"protein_id": "NP_001127861.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335965.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134389.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000335965.11",
"protein_id": "ENSP00000337475.6",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134389.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335965.11"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000396707.6",
"protein_id": "ENSP00000379935.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396707.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000396713.6",
"protein_id": "ENSP00000379941.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396713.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000405731.7",
"protein_id": "ENSP00000385027.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405731.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000870384.1",
"protein_id": "ENSP00000540443.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 364,
"cds_start": 26,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870384.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000870395.1",
"protein_id": "ENSP00000540454.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 364,
"cds_start": 26,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870395.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000870400.1",
"protein_id": "ENSP00000540459.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 364,
"cds_start": 26,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870400.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000937702.1",
"protein_id": "ENSP00000607761.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 364,
"cds_start": 26,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937702.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000937706.1",
"protein_id": "ENSP00000607765.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 364,
"cds_start": 26,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937706.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001371292.1",
"protein_id": "NP_001358221.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 359,
"cds_start": 26,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371292.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000937703.1",
"protein_id": "ENSP00000607762.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 359,
"cds_start": 26,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937703.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000965768.1",
"protein_id": "ENSP00000635827.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 359,
"cds_start": 26,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965768.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001134387.2",
"protein_id": "NP_001127859.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134387.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001134388.2",
"protein_id": "NP_001127860.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134388.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001371293.1",
"protein_id": "NP_001358222.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371293.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001371294.1",
"protein_id": "NP_001358223.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371294.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001371295.1",
"protein_id": "NP_001358224.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371295.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001371296.1",
"protein_id": "NP_001358225.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371296.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001371297.1",
"protein_id": "NP_001358226.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371297.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_018106.4",
"protein_id": "NP_060576.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018106.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC4",
"gene_hgnc_id": 18471,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000396706.2",
"protein_id": "ENSP00000379934.2",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}