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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: 7-94597964-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94597964&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94597964,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001099401.2",
"consequences": [
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1253+811A>C",
"hgvs_p": null,
"transcript": "NM_003919.3",
"protein_id": "NP_003910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000648936.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003919.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1253+811A>C",
"hgvs_p": null,
"transcript": "ENST00000648936.2",
"protein_id": "ENSP00000497130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_003919.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648936.2"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1205+811A>C",
"hgvs_p": null,
"transcript": "ENST00000428696.7",
"protein_id": "ENSP00000397536.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": null,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428696.7"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1226+811A>C",
"hgvs_p": null,
"transcript": "ENST00000447873.6",
"protein_id": "ENSP00000388734.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447873.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1402A>C",
"hgvs_p": "p.Ser468Arg",
"transcript": "ENST00000647096.1",
"protein_id": "ENSP00000494192.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 500,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647096.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1402A>C",
"hgvs_p": "p.Ser468Arg",
"transcript": "ENST00000898602.1",
"protein_id": "ENSP00000568661.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 498,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898602.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1375A>C",
"hgvs_p": "p.Ser459Arg",
"transcript": "ENST00000642707.1",
"protein_id": "ENSP00000495270.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 489,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642707.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1375A>C",
"hgvs_p": "p.Ser459Arg",
"transcript": "ENST00000898606.1",
"protein_id": "ENSP00000568665.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 489,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898606.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Ser432Arg",
"transcript": "ENST00000646943.1",
"protein_id": "ENSP00000494666.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 485,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646943.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1267A>C",
"hgvs_p": "p.Ser423Arg",
"transcript": "ENST00000644116.1",
"protein_id": "ENSP00000495276.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644116.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Ser432Arg",
"transcript": "ENST00000948720.1",
"protein_id": "ENSP00000618779.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 464,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948720.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Ser432Arg",
"transcript": "NM_001099401.2",
"protein_id": "NP_001092871.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 462,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099401.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Ser432Arg",
"transcript": "ENST00000445866.7",
"protein_id": "ENSP00000398930.2",
"transcript_support_level": 5,
"aa_start": 432,
"aa_end": null,
"aa_length": 462,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445866.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1273A>C",
"hgvs_p": "p.Ser425Arg",
"transcript": "ENST00000898608.1",
"protein_id": "ENSP00000568667.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 455,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898608.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1267A>C",
"hgvs_p": "p.Ser423Arg",
"transcript": "ENST00000898600.1",
"protein_id": "ENSP00000568659.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 453,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898600.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1171A>C",
"hgvs_p": "p.Ser391Arg",
"transcript": "ENST00000948719.1",
"protein_id": "ENSP00000618778.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 421,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.*807A>C",
"hgvs_p": null,
"transcript": "ENST00000645109.1",
"protein_id": "ENSP00000495931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645109.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1472+811A>C",
"hgvs_p": null,
"transcript": "ENST00000898607.1",
"protein_id": "ENSP00000568666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898607.1"
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1415+811A>C",
"hgvs_p": null,
"transcript": "ENST00000645101.1",
"protein_id": "ENSP00000494975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": null,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645101.1"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1334+811A>C",
"hgvs_p": null,
"transcript": "ENST00000647351.1",
"protein_id": "ENSP00000494556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647351.1"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1334+811A>C",
"hgvs_p": null,
"transcript": "ENST00000644122.1",
"protein_id": "ENSP00000495236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644122.1"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1331+811A>C",
"hgvs_p": null,
"transcript": "ENST00000647334.1",
"protein_id": "ENSP00000495114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"hgvs_c": "n.2404-33352T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Myoclonic dystonia 11,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Myoclonic dystonia 11|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}