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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: 16-85805091-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=85805091&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 85805091,
"ref": "T",
"alt": "G",
"effect": "start_lost",
"transcript": "NM_001318802.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "NM_001861.6",
"protein_id": "NP_001852.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001861.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000253452.8",
"protein_id": "ENSP00000253452.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001861.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253452.8"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.2T>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001318802.2",
"protein_id": "NP_001305731.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 118,
"cds_start": 2,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318802.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000924851.1",
"protein_id": "ENSP00000594910.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 206,
"cds_start": 228,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924851.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000906734.1",
"protein_id": "ENSP00000576793.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 179,
"cds_start": 228,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906734.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "NM_001318786.3",
"protein_id": "NP_001305715.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318786.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000561569.5",
"protein_id": "ENSP00000457015.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561569.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000562336.5",
"protein_id": "ENSP00000457513.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562336.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000906736.1",
"protein_id": "ENSP00000576795.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906736.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000906737.1",
"protein_id": "ENSP00000576796.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906737.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000906738.1",
"protein_id": "ENSP00000576797.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906738.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000906739.1",
"protein_id": "ENSP00000576798.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906739.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000924846.1",
"protein_id": "ENSP00000594905.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924846.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000924847.1",
"protein_id": "ENSP00000594906.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924847.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000924849.1",
"protein_id": "ENSP00000594908.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924849.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000924852.1",
"protein_id": "ENSP00000594911.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924852.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000924853.1",
"protein_id": "ENSP00000594912.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924853.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000968294.1",
"protein_id": "ENSP00000638353.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968294.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000968295.1",
"protein_id": "ENSP00000638354.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 228,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968295.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "NM_001318788.2",
"protein_id": "NP_001305717.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 140,
"cds_start": 228,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318788.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "NM_001318794.2",
"protein_id": "NP_001305723.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 139,
"cds_start": 228,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318794.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.228T>G",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000568794.5",
"protein_id": "ENSP00000455030.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 139,
"cds_start": 228,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568794.5"
},
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}