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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: 7-94598956-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94598956&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94598956,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001346713.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"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.1072C>G",
"hgvs_p": "p.Leu358Val",
"transcript": "NM_003919.3",
"protein_id": "NP_003910.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 437,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000648936.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003919.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"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.1072C>G",
"hgvs_p": "p.Leu358Val",
"transcript": "ENST00000648936.2",
"protein_id": "ENSP00000497130.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 437,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_003919.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648936.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Leu342Val",
"transcript": "ENST00000428696.7",
"protein_id": "ENSP00000397536.3",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 444,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428696.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1045C>G",
"hgvs_p": "p.Leu349Val",
"transcript": "ENST00000447873.6",
"protein_id": "ENSP00000388734.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 428,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447873.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1291C>G",
"hgvs_p": "p.Leu431Val",
"transcript": "ENST00000898607.1",
"protein_id": "ENSP00000568666.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 510,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898607.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1180C>G",
"hgvs_p": "p.Leu394Val",
"transcript": "ENST00000647096.1",
"protein_id": "ENSP00000494192.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 500,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647096.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1180C>G",
"hgvs_p": "p.Leu394Val",
"transcript": "ENST00000898602.1",
"protein_id": "ENSP00000568661.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 498,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898602.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1234C>G",
"hgvs_p": "p.Leu412Val",
"transcript": "ENST00000645101.1",
"protein_id": "ENSP00000494975.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 491,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645101.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1153C>G",
"hgvs_p": "p.Leu385Val",
"transcript": "ENST00000642707.1",
"protein_id": "ENSP00000495270.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 489,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642707.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1153C>G",
"hgvs_p": "p.Leu385Val",
"transcript": "ENST00000898606.1",
"protein_id": "ENSP00000568665.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 489,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898606.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1153C>G",
"hgvs_p": "p.Leu385Val",
"transcript": "ENST00000647351.1",
"protein_id": "ENSP00000494556.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 487,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647351.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Leu358Val",
"transcript": "ENST00000646943.1",
"protein_id": "ENSP00000494666.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 485,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646943.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1153C>G",
"hgvs_p": "p.Leu385Val",
"transcript": "ENST00000644122.1",
"protein_id": "ENSP00000495236.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 482,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644122.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1150C>G",
"hgvs_p": "p.Leu384Val",
"transcript": "ENST00000647334.1",
"protein_id": "ENSP00000495114.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 481,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647334.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1132C>G",
"hgvs_p": "p.Leu378Val",
"transcript": "ENST00000646265.1",
"protein_id": "ENSP00000494587.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 480,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646265.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1126C>G",
"hgvs_p": "p.Leu376Val",
"transcript": "ENST00000642441.1",
"protein_id": "ENSP00000495994.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 478,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642441.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1045C>G",
"hgvs_p": "p.Leu349Val",
"transcript": "ENST00000644116.1",
"protein_id": "ENSP00000495276.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 476,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644116.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1183C>G",
"hgvs_p": "p.Leu395Val",
"transcript": "ENST00000898603.1",
"protein_id": "ENSP00000568662.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 474,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898603.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1180C>G",
"hgvs_p": "p.Leu394Val",
"transcript": "NM_001346713.2",
"protein_id": "NP_001333642.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 473,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346713.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1111C>G",
"hgvs_p": "p.Leu371Val",
"transcript": "ENST00000644375.1",
"protein_id": "ENSP00000494315.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 473,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644375.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1180C>G",
"hgvs_p": "p.Leu394Val",
"transcript": "ENST00000646489.1",
"protein_id": "ENSP00000496268.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 473,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646489.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.1180C>G",
"hgvs_p": "p.Leu394Val",
"transcript": "ENST00000415788.3",
"protein_id": "ENSP00000405313.2",
"transcript_support_level": 2,
"aa_start": 394,
"aa_end": null,
"aa_length": 471,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1268,
"cdna_end": null,
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}