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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: 7-94628303-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94628303&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94628303,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000648936.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_003919.3",
"protein_id": "NP_003910.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 437,
"cds_start": 289,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000648936.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000648936.2",
"protein_id": "ENSP00000497130.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 437,
"cds_start": 289,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_003919.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000428696.7",
"protein_id": "ENSP00000397536.3",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 444,
"cds_start": 289,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000447873.6",
"protein_id": "ENSP00000388734.1",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 428,
"cds_start": 289,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000647096.1",
"protein_id": "ENSP00000494192.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 500,
"cds_start": 397,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000645101.1",
"protein_id": "ENSP00000494975.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 491,
"cds_start": 397,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000642707.1",
"protein_id": "ENSP00000495270.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 489,
"cds_start": 397,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000647351.1",
"protein_id": "ENSP00000494556.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 487,
"cds_start": 289,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000646943.1",
"protein_id": "ENSP00000494666.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 485,
"cds_start": 289,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000644122.1",
"protein_id": "ENSP00000495236.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 482,
"cds_start": 289,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132*",
"transcript": "ENST00000647334.1",
"protein_id": "ENSP00000495114.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 481,
"cds_start": 394,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126*",
"transcript": "ENST00000646265.1",
"protein_id": "ENSP00000494587.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 480,
"cds_start": 376,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000642441.1",
"protein_id": "ENSP00000495994.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 478,
"cds_start": 289,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000644116.1",
"protein_id": "ENSP00000495276.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 476,
"cds_start": 289,
"cds_end": null,
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"cdna_start": 338,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "NM_001346713.2",
"protein_id": "NP_001333642.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 473,
"cds_start": 397,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000644375.1",
"protein_id": "ENSP00000494315.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 473,
"cds_start": 289,
"cds_end": null,
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"cdna_start": 401,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000646489.1",
"protein_id": "ENSP00000496268.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 473,
"cds_start": 397,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000415788.3",
"protein_id": "ENSP00000405313.2",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 471,
"cds_start": 397,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "NM_001346715.2",
"protein_id": "NP_001333644.1",
"transcript_support_level": null,
"aa_start": 133,
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"aa_length": 464,
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"cdna_start": 432,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000643272.1",
"protein_id": "ENSP00000494488.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 464,
"cds_start": 397,
"cds_end": null,
"cds_length": 1395,
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"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000644551.1",
"protein_id": "ENSP00000493981.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
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"cds_start": 289,
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"cdna_start": 377,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_001099401.2",
"protein_id": "NP_001092871.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 462,
"cds_start": 289,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000445866.7",
"protein_id": "ENSP00000398930.2",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 462,
"cds_start": 289,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 337,
"cdna_end": null,
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],
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"dbsnp": "rs121908489",
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"allele_count_reference_population": 4,
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"gnomad_exomes_ac": 4,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000648936.2",
"gene_symbol": "SGCE",
"hgnc_id": 10808,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*"
},
{
"score": 14,
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"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_007060138.1",
"gene_symbol": "CASD1",
"hgnc_id": 16014,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Inborn genetic diseases,Myoclonic dystonia 11,SGCE-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:10",
"phenotype_combined": "Myoclonic dystonia 11|not provided|Inborn genetic diseases|SGCE-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}