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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: 4-113457429-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113457429&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113457429,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001321571.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "NM_001321571.2",
"protein_id": "NP_001308500.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 533,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": "ENST00000511664.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "ENST00000511664.6",
"protein_id": "ENSP00000425824.1",
"transcript_support_level": 2,
"aa_start": 481,
"aa_end": null,
"aa_length": 533,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": "NM_001321571.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1381A>C",
"hgvs_p": "p.Met461Leu",
"transcript": "ENST00000394522.7",
"protein_id": "ENSP00000378030.3",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 492,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1372A>C",
"hgvs_p": "p.Met458Leu",
"transcript": "ENST00000508738.5",
"protein_id": "ENSP00000422566.1",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 489,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1339A>C",
"hgvs_p": "p.Met447Leu",
"transcript": "ENST00000379773.6",
"protein_id": "ENSP00000369098.2",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 478,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "NM_001321569.2",
"protein_id": "NP_001308498.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 533,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1414A>C",
"hgvs_p": "p.Met472Leu",
"transcript": "NM_001321573.2",
"protein_id": "NP_001308502.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 524,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1414A>C",
"hgvs_p": "p.Met472Leu",
"transcript": "ENST00000699048.1",
"protein_id": "ENSP00000514100.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 524,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 5255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1474A>C",
"hgvs_p": "p.Met492Leu",
"transcript": "ENST00000699418.1",
"protein_id": "ENSP00000514376.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 523,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1474A>C",
"hgvs_p": "p.Met492Leu",
"transcript": "ENST00000706056.1",
"protein_id": "ENSP00000516208.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 523,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1399A>C",
"hgvs_p": "p.Met467Leu",
"transcript": "NM_001321580.2",
"protein_id": "NP_001308509.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 519,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 5743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1381A>C",
"hgvs_p": "p.Met461Leu",
"transcript": "NM_001321566.2",
"protein_id": "NP_001308495.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 513,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1381A>C",
"hgvs_p": "p.Met461Leu",
"transcript": "NM_001396964.1",
"protein_id": "NP_001383893.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 513,
"cds_start": 1381,
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"cds_length": 1542,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1381A>C",
"hgvs_p": "p.Met461Leu",
"transcript": "ENST00000699047.1",
"protein_id": "ENSP00000514099.1",
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"cds_start": 1381,
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"cdna_start": 1963,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1381A>C",
"hgvs_p": "p.Met461Leu",
"transcript": "ENST00000699381.1",
"protein_id": "ENSP00000514346.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 513,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "NM_001321567.2",
"protein_id": "NP_001308496.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
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"cds_start": 1441,
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"cdna_start": 2111,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "NM_001321570.2",
"protein_id": "NP_001308499.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 512,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 5689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "NM_001321572.2",
"protein_id": "NP_001308501.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 512,
"cds_start": 1441,
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"cds_length": 1539,
"cdna_start": 2111,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "NM_001321579.2",
"protein_id": "NP_001308508.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1378A>C",
"hgvs_p": "p.Met460Leu",
"transcript": "NM_001321588.2",
"protein_id": "NP_001308517.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
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"cds_start": 1378,
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"cdna_start": 2048,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "ENST00000505990.5",
"protein_id": "ENSP00000424245.1",
"transcript_support_level": 5,
"aa_start": 481,
"aa_end": null,
"aa_length": 512,
"cds_start": 1441,
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"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu",
"transcript": "ENST00000699376.1",
"protein_id": "ENSP00000514341.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 512,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.817,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321571.2",
"gene_symbol": "CAMK2D",
"hgnc_id": 1462,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1441A>C",
"hgvs_p": "p.Met481Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000835919.1",
"gene_symbol": "ENSG00000308709",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.136-45521T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}