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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: 17-57529695-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57529695&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 57529695,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138962.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "NM_138962.4",
"protein_id": "NP_620412.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": "ENST00000284073.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138962.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000284073.7",
"protein_id": "ENSP00000284073.2",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": "NM_138962.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284073.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.113T>C",
"hgvs_p": "p.Met38Thr",
"transcript": "ENST00000579180.2",
"protein_id": "ENSP00000462264.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 151,
"cds_start": 113,
"cds_end": null,
"cds_length": 456,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579180.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Met170Thr",
"transcript": "ENST00000902711.1",
"protein_id": "ENSP00000572770.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 356,
"cds_start": 509,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902711.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000902712.1",
"protein_id": "ENSP00000572771.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 342,
"cds_start": 425,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902712.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Met129Thr",
"transcript": "ENST00000675656.1",
"protein_id": "ENSP00000501595.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 341,
"cds_start": 386,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675656.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000902709.1",
"protein_id": "ENSP00000572768.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 336,
"cds_start": 425,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902709.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000674522.2",
"protein_id": "ENSP00000501836.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674522.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000674964.1",
"protein_id": "ENSP00000502137.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 6301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674964.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000902710.1",
"protein_id": "ENSP00000572769.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902710.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000940605.1",
"protein_id": "ENSP00000610664.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940605.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.359T>C",
"hgvs_p": "p.Met120Thr",
"transcript": "NM_001322250.2",
"protein_id": "NP_001309179.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 324,
"cds_start": 359,
"cds_end": null,
"cds_length": 975,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322250.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.359T>C",
"hgvs_p": "p.Met120Thr",
"transcript": "ENST00000416426.6",
"protein_id": "ENSP00000414671.2",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 324,
"cds_start": 359,
"cds_end": null,
"cds_length": 975,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416426.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000902708.1",
"protein_id": "ENSP00000572767.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 307,
"cds_start": 425,
"cds_end": null,
"cds_length": 924,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902708.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "ENST00000851004.1",
"protein_id": "ENSP00000521079.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 283,
"cds_start": 425,
"cds_end": null,
"cds_length": 852,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851004.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.242T>C",
"hgvs_p": "p.Met81Thr",
"transcript": "ENST00000442934.6",
"protein_id": "ENSP00000392607.2",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 267,
"cds_start": 242,
"cds_end": null,
"cds_length": 804,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442934.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "NM_001322251.2",
"protein_id": "NP_001309180.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 255,
"cds_start": 425,
"cds_end": null,
"cds_length": 768,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322251.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Met138Thr",
"transcript": "NM_170721.2",
"protein_id": "NP_733839.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 251,
"cds_start": 413,
"cds_end": null,
"cds_length": 756,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170721.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Met138Thr",
"transcript": "ENST00000322684.7",
"protein_id": "ENSP00000313616.3",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 251,
"cds_start": 413,
"cds_end": null,
"cds_length": 756,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322684.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Met26Thr",
"transcript": "ENST00000674898.1",
"protein_id": "ENSP00000502212.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 139,
"cds_start": 77,
"cds_end": null,
"cds_length": 420,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674898.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "XM_005257015.4",
"protein_id": "XP_005257072.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 346,
"cds_start": 425,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257015.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Met142Thr",
"transcript": "XM_047435311.1",
"protein_id": "XP_047291267.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": 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
}