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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: 7-90413289-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90413289&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90413289,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012129.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "NM_001185072.3",
"protein_id": "NP_001172001.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000496677.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185072.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000496677.6",
"protein_id": "ENSP00000419053.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001185072.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496677.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000287916.8",
"protein_id": "ENSP00000287916.4",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287916.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "NM_001185073.3",
"protein_id": "NP_001172002.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185073.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "NM_012129.5",
"protein_id": "NP_036261.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012129.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000394605.2",
"protein_id": "ENSP00000378103.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394605.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905674.1",
"protein_id": "ENSP00000575733.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905674.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905675.1",
"protein_id": "ENSP00000575734.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905675.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905676.1",
"protein_id": "ENSP00000575735.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905676.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905677.1",
"protein_id": "ENSP00000575736.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905677.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905678.1",
"protein_id": "ENSP00000575737.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905678.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905679.1",
"protein_id": "ENSP00000575738.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905679.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905680.1",
"protein_id": "ENSP00000575739.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905680.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905681.1",
"protein_id": "ENSP00000575740.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905681.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905682.1",
"protein_id": "ENSP00000575741.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905682.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905683.1",
"protein_id": "ENSP00000575742.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905683.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000905684.1",
"protein_id": "ENSP00000575743.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905684.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000920318.1",
"protein_id": "ENSP00000590377.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920318.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000920319.1",
"protein_id": "ENSP00000590378.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920319.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000920320.1",
"protein_id": "ENSP00000590379.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920320.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000920321.1",
"protein_id": "ENSP00000590380.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920321.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Pro205Ser",
"transcript": "ENST00000920322.1",
"protein_id": "ENSP00000590381.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920322.1"
},
{
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],
"inheritance_mode": "",
"hgvs_c": "n.210+7677C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000839054.1",
"gene_symbol": "ENSG00000309151",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.145+5158G>A",
"hgvs_p": null
}
],
"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
}