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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: 9-36353244-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36353244&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36353244,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022781.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Pro333Ala",
"transcript": "NM_022781.5",
"protein_id": "NP_073618.3",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 515,
"cds_start": 997,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": "ENST00000259605.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022781.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Pro333Ala",
"transcript": "ENST00000259605.11",
"protein_id": "ENSP00000259605.6",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 515,
"cds_start": 997,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": "NM_022781.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259605.11"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Pro283Ala",
"transcript": "ENST00000353739.8",
"protein_id": "ENSP00000335239.5",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 465,
"cds_start": 847,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353739.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Pro283Ala",
"transcript": "NM_194329.3",
"protein_id": "NP_919310.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 465,
"cds_start": 847,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194329.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"transcript": "ENST00000377877.4",
"protein_id": "ENSP00000367109.3",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 439,
"cds_start": 769,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377877.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"transcript": "ENST00000611646.4",
"protein_id": "ENSP00000483536.1",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 439,
"cds_start": 769,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611646.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "NM_194328.3",
"protein_id": "NP_919309.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194328.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "NM_194330.3",
"protein_id": "NP_919311.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194330.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "NM_194332.3",
"protein_id": "NP_919313.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194332.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "ENST00000350199.8",
"protein_id": "ENSP00000343947.4",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 5104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350199.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "ENST00000357058.7",
"protein_id": "ENSP00000349566.3",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357058.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "ENST00000377885.6",
"protein_id": "ENSP00000367117.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377885.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.1309C>G",
"hgvs_p": "p.Pro437Ala",
"transcript": "XM_047422794.1",
"protein_id": "XP_047278750.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 619,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422794.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Pro403Ala",
"transcript": "XM_047422795.1",
"protein_id": "XP_047278751.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 585,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 5219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422795.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.1159C>G",
"hgvs_p": "p.Pro387Ala",
"transcript": "XM_047422796.1",
"protein_id": "XP_047278752.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 569,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422796.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Pro299Ala",
"transcript": "XM_047422797.1",
"protein_id": "XP_047278753.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 481,
"cds_start": 895,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 4959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422797.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.784C>G",
"hgvs_p": "p.Pro262Ala",
"transcript": "XM_017014294.2",
"protein_id": "XP_016869783.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 444,
"cds_start": 784,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 4874,
"cdna_end": null,
"cdna_length": 8777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014294.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "XM_005251366.4",
"protein_id": "XP_005251423.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251366.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "XM_005251367.4",
"protein_id": "XP_005251424.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251367.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "XM_006716721.4",
"protein_id": "XP_006716784.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716721.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "XM_011517712.3",
"protein_id": "XP_011516014.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517712.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF38",
"gene_hgnc_id": 18052,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "XM_011517713.3",
"protein_id": "XP_011516015.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 432,
"cds_start": 748,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1095,
"cdna_end": null,
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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
}