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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: 17-17262045-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17262045&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17262045,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003653.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "NM_003653.4",
"protein_id": "NP_003644.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 423,
"cds_start": 683,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268717.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003653.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000268717.10",
"protein_id": "ENSP00000268717.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 423,
"cds_start": 683,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003653.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268717.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000954596.1",
"protein_id": "ENSP00000624655.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 423,
"cds_start": 683,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954596.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000954594.1",
"protein_id": "ENSP00000624653.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 417,
"cds_start": 683,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954594.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Ile216Thr",
"transcript": "ENST00000904397.1",
"protein_id": "ENSP00000574456.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 411,
"cds_start": 647,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904397.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Ile208Thr",
"transcript": "NM_001199125.1",
"protein_id": "NP_001186054.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 403,
"cds_start": 623,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199125.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Ile208Thr",
"transcript": "ENST00000539941.6",
"protein_id": "ENSP00000437606.2",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 403,
"cds_start": 623,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539941.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000904394.1",
"protein_id": "ENSP00000574453.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 401,
"cds_start": 683,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904394.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000904395.1",
"protein_id": "ENSP00000574454.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 396,
"cds_start": 683,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904395.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000904392.1",
"protein_id": "ENSP00000574451.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 394,
"cds_start": 683,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904392.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.590T>C",
"hgvs_p": "p.Ile197Thr",
"transcript": "ENST00000938832.1",
"protein_id": "ENSP00000608891.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 392,
"cds_start": 590,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938832.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000904396.1",
"protein_id": "ENSP00000574455.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 385,
"cds_start": 683,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904396.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000938834.1",
"protein_id": "ENSP00000608893.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 367,
"cds_start": 683,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938834.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "NM_001316355.2",
"protein_id": "NP_001303284.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 365,
"cds_start": 683,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316355.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Ile161Thr",
"transcript": "NM_001316356.2",
"protein_id": "NP_001303285.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 356,
"cds_start": 482,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316356.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Ile208Thr",
"transcript": "ENST00000439936.6",
"protein_id": "ENSP00000413298.2",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 345,
"cds_start": 623,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439936.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000904391.1",
"protein_id": "ENSP00000574450.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 343,
"cds_start": 683,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904391.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000938833.1",
"protein_id": "ENSP00000608892.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 336,
"cds_start": 683,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938833.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "NM_001316357.2",
"protein_id": "NP_001303286.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 318,
"cds_start": 368,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316357.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "NM_001316358.2",
"protein_id": "NP_001303287.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 318,
"cds_start": 368,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316358.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000417352.5",
"protein_id": "ENSP00000409028.1",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 317,
"cds_start": 683,
"cds_end": null,
"cds_length": 956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417352.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.293T>C",
"hgvs_p": "p.Ile98Thr",
"transcript": "NM_001316354.2",
"protein_id": "NP_001303283.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 293,
"cds_start": 293,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
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],
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}