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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: 12-132490740-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132490740&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132490740,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001142641.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "NM_001367871.1",
"protein_id": "NP_001354800.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1002,
"cds_start": 170,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680143.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367871.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000680143.1",
"protein_id": "ENSP00000505341.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1002,
"cds_start": 170,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367871.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680143.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000434748.2",
"protein_id": "ENSP00000396160.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 1045,
"cds_start": 170,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434748.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955044.1",
"protein_id": "ENSP00000625103.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1084,
"cds_start": 170,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955044.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955041.1",
"protein_id": "ENSP00000625100.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1083,
"cds_start": 170,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955041.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955045.1",
"protein_id": "ENSP00000625104.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1062,
"cds_start": 170,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955045.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000938325.1",
"protein_id": "ENSP00000608384.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1061,
"cds_start": 170,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938325.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955048.1",
"protein_id": "ENSP00000625107.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1061,
"cds_start": 170,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955048.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "NM_001142641.2",
"protein_id": "NP_001136113.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1045,
"cds_start": 170,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142641.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000938324.1",
"protein_id": "ENSP00000608383.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1043,
"cds_start": 170,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938324.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000938322.1",
"protein_id": "ENSP00000608381.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1042,
"cds_start": 170,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938322.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955047.1",
"protein_id": "ENSP00000625106.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1042,
"cds_start": 170,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955047.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000650108.1",
"protein_id": "ENSP00000496901.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1041,
"cds_start": 170,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650108.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "NM_001382739.1",
"protein_id": "NP_001369668.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1020,
"cds_start": 170,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382739.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000938323.1",
"protein_id": "ENSP00000608382.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1020,
"cds_start": 170,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938323.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955042.1",
"protein_id": "ENSP00000625101.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1019,
"cds_start": 170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955042.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955040.1",
"protein_id": "ENSP00000625099.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1018,
"cds_start": 170,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955040.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955049.1",
"protein_id": "ENSP00000625108.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1009,
"cds_start": 170,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955049.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000938327.1",
"protein_id": "ENSP00000608386.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1000,
"cds_start": 170,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938327.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000938321.1",
"protein_id": "ENSP00000608380.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 999,
"cds_start": 170,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938321.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955046.1",
"protein_id": "ENSP00000625105.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 991,
"cds_start": 170,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955046.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRSL1",
"gene_hgnc_id": 29308,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly",
"transcript": "ENST00000955043.1",
"protein_id": "ENSP00000625102.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 986,
"cds_start": 170,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ala57Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}