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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: 3-9762926-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9762926&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9762926,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003656.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "NM_003656.5",
"protein_id": "NP_003647.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 370,
"cds_start": 417,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": "ENST00000256460.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003656.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "ENST00000256460.8",
"protein_id": "ENSP00000256460.3",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 370,
"cds_start": 417,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": "NM_003656.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256460.8"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.949-2883G>C",
"hgvs_p": null,
"transcript": "ENST00000302036.12",
"protein_id": "ENSP00000306561.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302036.12"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.748-2883G>C",
"hgvs_p": null,
"transcript": "ENST00000352937.6",
"protein_id": "ENSP00000344899.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352937.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "ENST00000962076.1",
"protein_id": "ENSP00000632135.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 433,
"cds_start": 417,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962076.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.462C>G",
"hgvs_p": "p.His154Gln",
"transcript": "ENST00000962077.1",
"protein_id": "ENSP00000632136.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 385,
"cds_start": 462,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962077.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "ENST00000856591.1",
"protein_id": "ENSP00000526650.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 370,
"cds_start": 417,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856591.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "ENST00000856594.1",
"protein_id": "ENSP00000526653.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 370,
"cds_start": 417,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856594.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "ENST00000856596.1",
"protein_id": "ENSP00000526655.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 370,
"cds_start": 417,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856596.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "ENST00000856597.1",
"protein_id": "ENSP00000526656.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 367,
"cds_start": 417,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856597.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "ENST00000856595.1",
"protein_id": "ENSP00000526654.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 355,
"cds_start": 417,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856595.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.285C>G",
"hgvs_p": "p.His95Gln",
"transcript": "ENST00000856593.1",
"protein_id": "ENSP00000526652.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 326,
"cds_start": 285,
"cds_end": null,
"cds_length": 981,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856593.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.285C>G",
"hgvs_p": "p.His95Gln",
"transcript": "ENST00000411972.1",
"protein_id": "ENSP00000404587.1",
"transcript_support_level": 3,
"aa_start": 95,
"aa_end": null,
"aa_length": 121,
"cds_start": 285,
"cds_end": null,
"cds_length": 367,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411972.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "XM_005265516.3",
"protein_id": "XP_005265573.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 413,
"cds_start": 417,
"cds_end": null,
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"cdna_start": 565,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265516.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.285C>G",
"hgvs_p": "p.His95Gln",
"transcript": "XM_005265517.4",
"protein_id": "XP_005265574.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 369,
"cds_start": 285,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265517.4"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.285C>G",
"hgvs_p": "p.His95Gln",
"transcript": "XM_017007354.2",
"protein_id": "XP_016862843.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 326,
"cds_start": 285,
"cds_end": null,
"cds_length": 981,
"cdna_start": 433,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007354.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.His139Gln",
"transcript": "XM_047449089.1",
"protein_id": "XP_047305045.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 229,
"cds_start": 417,
"cds_end": null,
"cds_length": 690,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449089.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.949-2883G>C",
"hgvs_p": null,
"transcript": "NM_016821.3",
"protein_id": "NP_058214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_016821.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.748-2883G>C",
"hgvs_p": null,
"transcript": "NM_016826.3",
"protein_id": "NP_058434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016826.3"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.1049-2883G>C",
"hgvs_p": null,
"transcript": "NM_016828.3",
"protein_id": "NP_058437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016828.3"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.1049-2883G>C",
"hgvs_p": null,
"transcript": "ENST00000302008.12",
"protein_id": "ENSP00000305527.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302008.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.372+45C>G",
"hgvs_p": null,
"transcript": "ENST00000856592.1",
"protein_id": "ENSP00000526651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856592.1"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}