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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: 21-43980993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43980993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43980993,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020132.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_020132.5",
"protein_id": "NP_064517.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291572.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020132.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000291572.13",
"protein_id": "ENSP00000291572.8",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020132.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291572.13"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000327505.6",
"protein_id": "ENSP00000332989.2",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327505.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000398058.5",
"protein_id": "ENSP00000381135.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398058.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000398061.5",
"protein_id": "ENSP00000381138.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398061.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000398063.6",
"protein_id": "ENSP00000381140.2",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398063.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001037553.2",
"protein_id": "NP_001032642.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037553.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001369878.1",
"protein_id": "NP_001356807.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369878.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001369880.1",
"protein_id": "NP_001356809.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369880.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000546158.1",
"protein_id": "ENSP00000443510.1",
"transcript_support_level": 5,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546158.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"transcript": "NM_001369881.1",
"protein_id": "NP_001356810.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369881.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ala436Val",
"transcript": "XM_047440915.1",
"protein_id": "XP_047296871.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 529,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440915.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ala436Val",
"transcript": "XM_047440916.1",
"protein_id": "XP_047296872.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 529,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440916.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Ala370Val",
"transcript": "XM_047440920.1",
"protein_id": "XP_047296876.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 463,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440920.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"transcript": "XM_017028408.2",
"protein_id": "XP_016883897.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 406,
"cds_start": 938,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028408.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "XM_047440917.1",
"protein_id": "XP_047296873.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 400,
"cds_start": 920,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440917.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "XM_047440921.1",
"protein_id": "XP_047296877.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 400,
"cds_start": 920,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440921.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "XM_047440922.1",
"protein_id": "XP_047296878.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 400,
"cds_start": 920,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440922.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "XM_005261160.5",
"protein_id": "XP_005261217.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261160.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "XM_006724030.4",
"protein_id": "XP_006724093.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724030.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "XM_047440914.1",
"protein_id": "XP_047296870.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440914.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT3",
"gene_hgnc_id": 326,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "XM_047440919.1",
"protein_id": "XP_047296875.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440919.1"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}