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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: 1-204530752-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204530752&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204530752,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002393.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "NM_002393.5",
"protein_id": "NP_002384.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 10050,
"mane_select": "ENST00000367182.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002393.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000367182.8",
"protein_id": "ENSP00000356150.3",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 10050,
"mane_select": "NM_002393.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367182.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000454264.6",
"protein_id": "ENSP00000396840.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 440,
"cds_start": 222,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 9926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454264.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.78+5156A>T",
"hgvs_p": null,
"transcript": "ENST00000367183.7",
"protein_id": "ENSP00000356151.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367183.7"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000880815.1",
"protein_id": "ENSP00000550874.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880815.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000880816.1",
"protein_id": "ENSP00000550875.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880816.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000880817.1",
"protein_id": "ENSP00000550876.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880817.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000922675.1",
"protein_id": "ENSP00000592734.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922675.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000959568.1",
"protein_id": "ENSP00000629627.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959568.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000880814.1",
"protein_id": "ENSP00000550873.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 485,
"cds_start": 222,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880814.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000922677.1",
"protein_id": "ENSP00000592736.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 485,
"cds_start": 222,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922677.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.171A>T",
"hgvs_p": "p.Val57Val",
"transcript": "ENST00000959566.1",
"protein_id": "ENSP00000629625.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 473,
"cds_start": 171,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959566.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.147A>T",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000922676.1",
"protein_id": "ENSP00000592735.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 465,
"cds_start": 147,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922676.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "NM_001204171.2",
"protein_id": "NP_001191100.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 440,
"cds_start": 222,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 9900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204171.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000922679.1",
"protein_id": "ENSP00000592738.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 440,
"cds_start": 222,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922679.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000959567.1",
"protein_id": "ENSP00000629626.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 434,
"cds_start": 222,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959567.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "NM_001278516.2",
"protein_id": "NP_001265445.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 140,
"cds_start": 222,
"cds_end": null,
"cds_length": 423,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 9982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278516.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "ENST00000367180.5",
"protein_id": "ENSP00000356148.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 131,
"cds_start": 222,
"cds_end": null,
"cds_length": 396,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367180.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "NM_001278518.2",
"protein_id": "NP_001265447.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 116,
"cds_start": 222,
"cds_end": null,
"cds_length": 351,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 9571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278518.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.276A>T",
"hgvs_p": "p.Val92Val",
"transcript": "XM_017001311.2",
"protein_id": "XP_016856800.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 508,
"cds_start": 276,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 10076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001311.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.276A>T",
"hgvs_p": "p.Val92Val",
"transcript": "XM_017001312.2",
"protein_id": "XP_016856801.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 503,
"cds_start": 276,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 10061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001312.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Val74Val",
"transcript": "XM_024447114.2",
"protein_id": "XP_024302882.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 490,
"cds_start": 222,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447114.2"
},
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
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}