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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: 11-126235033-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126235033&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126235033,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024556.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "NM_024556.4",
"protein_id": "NP_078832.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533050.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024556.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000533050.6",
"protein_id": "ENSP00000433343.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024556.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533050.6"
},
{
"aa_ref": "I",
"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": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891485.1",
"protein_id": "ENSP00000561544.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 376,
"cds_start": 32,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891485.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891481.1",
"protein_id": "ENSP00000561540.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 355,
"cds_start": 32,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891481.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891482.1",
"protein_id": "ENSP00000561541.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 354,
"cds_start": 32,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891482.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "NM_001439324.1",
"protein_id": "NP_001426253.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439324.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891478.1",
"protein_id": "ENSP00000561537.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891478.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891484.1",
"protein_id": "ENSP00000561543.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891484.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891486.1",
"protein_id": "ENSP00000561545.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891486.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000933496.1",
"protein_id": "ENSP00000603555.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933496.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000933500.1",
"protein_id": "ENSP00000603559.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 351,
"cds_start": 32,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933500.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "NM_001330446.2",
"protein_id": "NP_001317375.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 350,
"cds_start": 32,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330446.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "NM_001439325.1",
"protein_id": "NP_001426254.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 350,
"cds_start": 32,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439325.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000360194.8",
"protein_id": "ENSP00000353321.4",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 350,
"cds_start": 32,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360194.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891477.1",
"protein_id": "ENSP00000561536.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 350,
"cds_start": 32,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891477.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000933498.1",
"protein_id": "ENSP00000603557.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 350,
"cds_start": 32,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933498.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000942846.1",
"protein_id": "ENSP00000612905.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 350,
"cds_start": 32,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942846.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000528985.5",
"protein_id": "ENSP00000434952.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 345,
"cds_start": 32,
"cds_end": null,
"cds_length": 1040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528985.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891483.1",
"protein_id": "ENSP00000561542.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 340,
"cds_start": 32,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891483.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000933494.1",
"protein_id": "ENSP00000603553.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933494.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000891479.1",
"protein_id": "ENSP00000561538.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 331,
"cds_start": 32,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891479.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118B",
"gene_hgnc_id": 26110,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Ile11Thr",
"transcript": "ENST00000933495.1",
"protein_id": "ENSP00000603554.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 331,
"cds_start": 32,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}