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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: 17-41977285-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41977285&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41977285,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000457167.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Gly475Ser",
"transcript": "NM_003315.4",
"protein_id": "NP_003306.3",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 494,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": "ENST00000457167.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Gly475Ser",
"transcript": "ENST00000457167.9",
"protein_id": "ENSP00000406463.2",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 494,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": "NM_003315.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000316603.12",
"protein_id": "ENSP00000313311.7",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.*3361C>T",
"hgvs_p": null,
"transcript": "NM_033133.5",
"protein_id": "NP_149124.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": "ENST00000393892.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNP",
"gene_hgnc_id": 2158,
"hgvs_c": "c.*3361C>T",
"hgvs_p": null,
"transcript": "ENST00000393892.8",
"protein_id": "ENSP00000377470.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": "NM_033133.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Gly478Ser",
"transcript": "ENST00000674233.1",
"protein_id": "ENSP00000501456.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 497,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Gly462Ser",
"transcript": "ENST00000674214.1",
"protein_id": "ENSP00000501531.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 481,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Gly451Ser",
"transcript": "ENST00000674411.1",
"protein_id": "ENSP00000501509.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 465,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1399,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Gly437Ser",
"transcript": "ENST00000674306.1",
"protein_id": "ENSP00000501356.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 456,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "NM_001144766.3",
"protein_id": "NP_001138238.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000426588.7",
"protein_id": "ENSP00000394327.2",
"transcript_support_level": 2,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000590774.6",
"protein_id": "ENSP00000465340.2",
"transcript_support_level": 4,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000674166.1",
"protein_id": "ENSP00000501364.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000674252.1",
"protein_id": "ENSP00000501366.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000674287.1",
"protein_id": "ENSP00000501482.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000674303.1",
"protein_id": "ENSP00000501468.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000674497.1",
"protein_id": "ENSP00000501438.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 435,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1310,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Gly382Ser",
"transcript": "ENST00000589576.6",
"protein_id": "ENSP00000468102.2",
"transcript_support_level": 3,
"aa_start": 382,
"aa_end": null,
"aa_length": 401,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Gly335Ser",
"transcript": "ENST00000674355.1",
"protein_id": "ENSP00000501508.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 354,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Ser",
"transcript": "ENST00000587727.6",
"protein_id": "ENSP00000467702.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 55,
"cds_start": 106,
"cds_end": null,
"cds_length": 168,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "XM_011525167.4",
"protein_id": "XP_011523469.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "XM_011525169.4",
"protein_id": "XP_011523471.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "XM_017024994.3",
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"hgvs_c": "c.*3361C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}