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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: 1-211313577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=211313577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 211313577,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350069.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Pro491Ser",
"transcript": "NM_001136223.3",
"protein_id": "NP_001129695.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 553,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000419091.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136223.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Pro491Ser",
"transcript": "ENST00000419091.7",
"protein_id": "ENSP00000413929.2",
"transcript_support_level": 2,
"aa_start": 491,
"aa_end": null,
"aa_length": 553,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136223.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419091.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Pro433Ser",
"transcript": "ENST00000367005.8",
"protein_id": "ENSP00000355972.4",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 495,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367005.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Ser410Phe",
"transcript": "ENST00000367006.8",
"protein_id": "ENSP00000355973.4",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 436,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367006.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "n.647C>T",
"hgvs_p": null,
"transcript": "ENST00000526255.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526255.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Pro524Ser",
"transcript": "ENST00000905998.1",
"protein_id": "ENSP00000576057.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 586,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905998.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Pro523Ser",
"transcript": "NM_001350069.2",
"protein_id": "NP_001336998.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 585,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350069.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Pro523Ser",
"transcript": "ENST00000905997.1",
"protein_id": "ENSP00000576056.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 585,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905997.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Pro520Ser",
"transcript": "ENST00000942863.1",
"protein_id": "ENSP00000612922.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 582,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942863.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Pro519Ser",
"transcript": "ENST00000906000.1",
"protein_id": "ENSP00000576059.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 581,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906000.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1465C>T",
"hgvs_p": "p.Pro489Ser",
"transcript": "ENST00000905995.1",
"protein_id": "ENSP00000576054.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 551,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905995.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Pro465Ser",
"transcript": "ENST00000905993.1",
"protein_id": "ENSP00000576052.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 527,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905993.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Pro448Ser",
"transcript": "ENST00000905999.1",
"protein_id": "ENSP00000576058.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 510,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905999.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Pro433Ser",
"transcript": "NM_018254.5",
"protein_id": "NP_060724.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 495,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018254.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Pro432Ser",
"transcript": "ENST00000905994.1",
"protein_id": "ENSP00000576053.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 494,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905994.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Pro431Ser",
"transcript": "ENST00000905991.1",
"protein_id": "ENSP00000576050.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 493,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905991.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Pro423Ser",
"transcript": "ENST00000905996.1",
"protein_id": "ENSP00000576055.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 485,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905996.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Ser410Phe",
"transcript": "NM_001136224.4",
"protein_id": "NP_001129696.2",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 436,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136224.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Pro370Ser",
"transcript": "NM_001350070.2",
"protein_id": "NP_001336999.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 432,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350070.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"transcript": "ENST00000905992.1",
"protein_id": "ENSP00000576051.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 427,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905992.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Pro244Ser",
"transcript": "ENST00000942864.1",
"protein_id": "ENSP00000612923.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 306,
"cds_start": 730,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942864.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Pro209Ser",
"transcript": "ENST00000529763.5",
"protein_id": "ENSP00000437048.1",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 239,
"cds_start": 625,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529763.5"
},
{
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{
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],
"verdict": "Uncertain_significance",
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],
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],
"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
}