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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: 1-148962598-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=148962598&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 148962598,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001395297.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.His450His",
"transcript": "NM_001395426.1",
"protein_id": "NP_001382355.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2412,
"cds_start": 1350,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695795.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395426.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.His450His",
"transcript": "ENST00000695795.1",
"protein_id": "ENSP00000512175.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2412,
"cds_start": 1350,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395426.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695795.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.His384His",
"transcript": "ENST00000369356.8",
"protein_id": "ENSP00000358363.4",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 2362,
"cds_start": 1152,
"cds_end": null,
"cds_length": 7089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369356.8"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.His384His",
"transcript": "ENST00000369354.7",
"protein_id": "ENSP00000358360.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 2346,
"cds_start": 1152,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369354.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.His450His",
"transcript": "ENST00000618462.4",
"protein_id": "ENSP00000479409.1",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 2240,
"cds_start": 1350,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618462.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.His547His",
"transcript": "ENST00000313431.13",
"protein_id": "ENSP00000316434.9",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 1132,
"cds_start": 1641,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313431.13"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.His547His",
"transcript": "ENST00000529945.2",
"protein_id": "ENSP00000433392.1",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 1116,
"cds_start": 1641,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529945.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.His384His",
"transcript": "ENST00000369351.7",
"protein_id": "ENSP00000358357.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 988,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369351.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.His384His",
"transcript": "ENST00000369349.7",
"protein_id": "ENSP00000358355.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 969,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369349.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.His547His",
"transcript": "NM_001395297.1",
"protein_id": "NP_001382226.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 2525,
"cds_start": 1641,
"cds_end": null,
"cds_length": 7578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395297.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.His547His",
"transcript": "NM_001350520.2",
"protein_id": "NP_001337449.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 2508,
"cds_start": 1641,
"cds_end": null,
"cds_length": 7527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350520.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.His547His",
"transcript": "ENST00000704840.1",
"protein_id": "ENSP00000516056.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 2508,
"cds_start": 1641,
"cds_end": null,
"cds_length": 7527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704840.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1563C>T",
"hgvs_p": "p.His521His",
"transcript": "NM_001377392.2",
"protein_id": "NP_001364321.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 2483,
"cds_start": 1563,
"cds_end": null,
"cds_length": 7452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377392.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1563C>T",
"hgvs_p": "p.His521His",
"transcript": "ENST00000695794.1",
"protein_id": "ENSP00000512174.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 2483,
"cds_start": 1563,
"cds_end": null,
"cds_length": 7452,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695794.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1563C>T",
"hgvs_p": "p.His521His",
"transcript": "NM_001395298.1",
"protein_id": "NP_001382227.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 2482,
"cds_start": 1563,
"cds_end": null,
"cds_length": 7449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395298.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1563C>T",
"hgvs_p": "p.His521His",
"transcript": "ENST00000585156.5",
"protein_id": "ENSP00000462316.2",
"transcript_support_level": 5,
"aa_start": 521,
"aa_end": null,
"aa_length": 2482,
"cds_start": 1563,
"cds_end": null,
"cds_length": 7449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585156.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.His547His",
"transcript": "NM_001395299.1",
"protein_id": "NP_001382228.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 2462,
"cds_start": 1641,
"cds_end": null,
"cds_length": 7389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395299.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1563C>T",
"hgvs_p": "p.His521His",
"transcript": "NM_001350521.4",
"protein_id": "NP_001337450.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 2460,
"cds_start": 1563,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350521.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.His484His",
"transcript": "NM_001395300.1",
"protein_id": "NP_001382229.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1452,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395300.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1563C>T",
"hgvs_p": "p.His521His",
"transcript": "ENST00000524974.5",
"protein_id": "ENSP00000480806.1",
"transcript_support_level": 5,
"aa_start": 521,
"aa_end": null,
"aa_length": 2431,
"cds_start": 1563,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524974.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.His547His",
"transcript": "NM_001395301.1",
"protein_id": "NP_001382230.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 2428,
"cds_start": 1641,
"cds_end": null,
"cds_length": 7287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395301.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.His484His",
"transcript": "NM_001395302.1",
"protein_id": "NP_001382231.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 2382,
"cds_start": 1452,
"cds_end": null,
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{
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"BP7"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}