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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: 7-94618910-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94618910&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94618910,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000648936.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn",
"transcript": "NM_003919.3",
"protein_id": "NP_003910.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 437,
"cds_start": 510,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000648936.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn",
"transcript": "ENST00000648936.2",
"protein_id": "ENSP00000497130.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 437,
"cds_start": 510,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_003919.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Asn163Asn",
"transcript": "ENST00000428696.7",
"protein_id": "ENSP00000397536.3",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 444,
"cds_start": 489,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn",
"transcript": "ENST00000447873.6",
"protein_id": "ENSP00000388734.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 428,
"cds_start": 510,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Asn206Asn",
"transcript": "ENST00000647096.1",
"protein_id": "ENSP00000494192.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 500,
"cds_start": 618,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.699T>C",
"hgvs_p": "p.Asn233Asn",
"transcript": "ENST00000645101.1",
"protein_id": "ENSP00000494975.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 491,
"cds_start": 699,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Asn206Asn",
"transcript": "ENST00000642707.1",
"protein_id": "ENSP00000495270.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 489,
"cds_start": 618,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.591T>C",
"hgvs_p": "p.Asn197Asn",
"transcript": "ENST00000647351.1",
"protein_id": "ENSP00000494556.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 487,
"cds_start": 591,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn",
"transcript": "ENST00000646943.1",
"protein_id": "ENSP00000494666.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 485,
"cds_start": 510,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.591T>C",
"hgvs_p": "p.Asn197Asn",
"transcript": "ENST00000644122.1",
"protein_id": "ENSP00000495236.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 482,
"cds_start": 591,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Asn205Asn",
"transcript": "ENST00000647334.1",
"protein_id": "ENSP00000495114.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 481,
"cds_start": 615,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.597T>C",
"hgvs_p": "p.Asn199Asn",
"transcript": "ENST00000646265.1",
"protein_id": "ENSP00000494587.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 480,
"cds_start": 597,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.591T>C",
"hgvs_p": "p.Asn197Asn",
"transcript": "ENST00000642441.1",
"protein_id": "ENSP00000495994.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 478,
"cds_start": 591,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn",
"transcript": "ENST00000644116.1",
"protein_id": "ENSP00000495276.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 476,
"cds_start": 510,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Asn206Asn",
"transcript": "NM_001346713.2",
"protein_id": "NP_001333642.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 473,
"cds_start": 618,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Asn192Asn",
"transcript": "ENST00000644375.1",
"protein_id": "ENSP00000494315.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 473,
"cds_start": 576,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Asn206Asn",
"transcript": "ENST00000646489.1",
"protein_id": "ENSP00000496268.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 473,
"cds_start": 618,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Asn206Asn",
"transcript": "ENST00000415788.3",
"protein_id": "ENSP00000405313.2",
"transcript_support_level": 2,
"aa_start": 206,
"aa_end": null,
"aa_length": 471,
"cds_start": 618,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Asn206Asn",
"transcript": "NM_001346715.2",
"protein_id": "NP_001333644.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 464,
"cds_start": 618,
"cds_end": null,
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"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Asn206Asn",
"transcript": "ENST00000643272.1",
"protein_id": "ENSP00000494488.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 464,
"cds_start": 618,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.591T>C",
"hgvs_p": "p.Asn197Asn",
"transcript": "ENST00000644551.1",
"protein_id": "ENSP00000493981.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 464,
"cds_start": 591,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn",
"transcript": "NM_001099401.2",
"protein_id": "NP_001092871.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 462,
"cds_start": 510,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn",
"transcript": "ENST00000445866.7",
"protein_id": "ENSP00000398930.2",
"transcript_support_level": 5,
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"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000648936.2",
"gene_symbol": "SGCE",
"hgnc_id": 10808,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.510T>C",
"hgvs_p": "p.Asn170Asn"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "XR_007060138.1",
"gene_symbol": "CASD1",
"hgnc_id": 16014,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.2404-12406A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Myoclonic dystonia 11,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "Myoclonic dystonia 11|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}