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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: 2-85848108-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85848108&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85848108,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000638572.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.415G>T",
"hgvs_p": "p.Val139Leu",
"transcript": "NM_003896.4",
"protein_id": "NP_003887.3",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 418,
"cds_start": 415,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "ENST00000638572.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.415G>T",
"hgvs_p": "p.Val139Leu",
"transcript": "ENST00000638572.2",
"protein_id": "ENSP00000491316.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 418,
"cds_start": 415,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "NM_003896.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.346G>T",
"hgvs_p": "p.Val116Leu",
"transcript": "ENST00000393808.8",
"protein_id": "ENSP00000377397.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 395,
"cds_start": 346,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000393805.6",
"protein_id": "ENSP00000377394.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.1469G>T",
"hgvs_p": null,
"transcript": "ENST00000461206.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*579G>T",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*579G>T",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.-490G>T",
"hgvs_p": null,
"transcript": "NM_001354247.1",
"protein_id": "NP_001341176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.472G>T",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000640418.1",
"protein_id": "ENSP00000492098.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 437,
"cds_start": 472,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.412G>T",
"hgvs_p": "p.Val138Leu",
"transcript": "ENST00000639305.1",
"protein_id": "ENSP00000492244.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 406,
"cds_start": 412,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.346G>T",
"hgvs_p": "p.Val116Leu",
"transcript": "NM_001042437.2",
"protein_id": "NP_001035902.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 395,
"cds_start": 346,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "NM_001354227.2",
"protein_id": "NP_001341156.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "NM_001354229.2",
"protein_id": "NP_001341158.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "NM_001354238.1",
"protein_id": "NP_001341167.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000638986.1",
"protein_id": "ENSP00000491853.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000639432.1",
"protein_id": "ENSP00000491828.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
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"cdna_start": 507,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000640322.1",
"protein_id": "ENSP00000491564.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000640982.1",
"protein_id": "ENSP00000492299.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000640992.1",
"protein_id": "ENSP00000492753.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 390,
"cds_start": 331,
"cds_end": null,
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"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.415G>T",
"hgvs_p": "p.Val139Leu",
"transcript": "NM_001363847.1",
"protein_id": "NP_001350776.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 365,
"cds_start": 415,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.415G>T",
"hgvs_p": "p.Val139Leu",
"transcript": "ENST00000639119.1",
"protein_id": "ENSP00000492045.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 365,
"cds_start": 415,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000638178.1",
"protein_id": "ENSP00000492103.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 337,
"cds_start": 331,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.31G>T",
"hgvs_p": "p.Val11Leu",
"transcript": "NM_001354223.2",
"protein_id": "NP_001341152.1",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
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}
],
"message": null
}