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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: 17-76733682-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76733682&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76733682,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000341249.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001080510.5",
"protein_id": "NP_001073979.3",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "ENST00000341249.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "ENST00000341249.11",
"protein_id": "ENSP00000341543.5",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "NM_001080510.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "ENST00000590964.5",
"protein_id": "ENSP00000465890.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 368,
"cds_end": null,
"cds_length": 372,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Leu71Pro",
"transcript": "ENST00000586200.1",
"protein_id": "ENSP00000465959.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 71,
"cds_start": 212,
"cds_end": null,
"cds_length": 216,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267168",
"gene_hgnc_id": null,
"hgvs_c": "c.238+467T>C",
"hgvs_p": null,
"transcript": "ENST00000587459.1",
"protein_id": "ENSP00000466829.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001206983.3",
"protein_id": "NP_001193912.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001206984.3",
"protein_id": "NP_001193913.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001302703.2",
"protein_id": "NP_001289632.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001378348.1",
"protein_id": "NP_001365277.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001378349.1",
"protein_id": "NP_001365278.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "ENST00000615984.4",
"protein_id": "ENSP00000482599.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 190,
"cds_start": 569,
"cds_end": null,
"cds_length": 573,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Leu186Pro",
"transcript": "NM_001302705.2",
"protein_id": "NP_001289634.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 186,
"cds_start": 557,
"cds_end": null,
"cds_length": 561,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Leu186Pro",
"transcript": "NM_001378350.1",
"protein_id": "NP_001365279.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 186,
"cds_start": 557,
"cds_end": null,
"cds_length": 561,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Leu186Pro",
"transcript": "NM_001378351.1",
"protein_id": "NP_001365280.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 186,
"cds_start": 557,
"cds_end": null,
"cds_length": 561,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Leu186Pro",
"transcript": "NM_001378352.1",
"protein_id": "NP_001365281.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 186,
"cds_start": 557,
"cds_end": null,
"cds_length": 561,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Leu186Pro",
"transcript": "NM_001378353.1",
"protein_id": "NP_001365282.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 186,
"cds_start": 557,
"cds_end": null,
"cds_length": 561,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "NM_001206985.3",
"protein_id": "NP_001193914.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 368,
"cds_end": null,
"cds_length": 372,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "NM_001206986.3",
"protein_id": "NP_001193915.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 368,
"cds_end": null,
"cds_length": 372,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "NM_001206987.3",
"protein_id": "NP_001193916.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 368,
"cds_end": null,
"cds_length": 372,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "NM_001302704.2",
"protein_id": "NP_001289633.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 368,
"cds_end": null,
"cds_length": 372,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "NM_001378354.1",
"protein_id": "NP_001365283.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 368,
"cds_end": null,
"cds_length": 372,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "ENST00000586752.5",
"protein_id": "ENSP00000466203.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 368,
"cds_end": null,
"cds_length": 372,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Leu123Pro",
"transcript": "ENST00000588822.1",
"protein_id": "ENSP00000465430.1",
"transcript_support_level": 3,
"aa_start": 123,
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
"score": -20,
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"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000341249.11",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -16,
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"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000587459.1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}