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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: 10-124403847-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=124403847&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 124403847,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000274.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "NM_000274.4",
"protein_id": "NP_000265.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368845.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000274.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000368845.6",
"protein_id": "ENSP00000357838.5",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000274.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368845.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Pro103Arg",
"transcript": "ENST00000539214.5",
"protein_id": "ENSP00000439042.1",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 301,
"cds_start": 308,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539214.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000921313.1",
"protein_id": "ENSP00000591372.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 440,
"cds_start": 722,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921313.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "NM_001322965.2",
"protein_id": "NP_001309894.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322965.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "NM_001322966.2",
"protein_id": "NP_001309895.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322966.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "NM_001322967.2",
"protein_id": "NP_001309896.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322967.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "NM_001322968.2",
"protein_id": "NP_001309897.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322968.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "NM_001322969.2",
"protein_id": "NP_001309898.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322969.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "NM_001322970.2",
"protein_id": "NP_001309899.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322970.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858831.1",
"protein_id": "ENSP00000528890.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858831.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858833.1",
"protein_id": "ENSP00000528892.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858833.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858834.1",
"protein_id": "ENSP00000528893.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858834.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858835.1",
"protein_id": "ENSP00000528894.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858835.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858836.1",
"protein_id": "ENSP00000528895.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858836.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858838.1",
"protein_id": "ENSP00000528897.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858838.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858839.1",
"protein_id": "ENSP00000528898.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858839.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000858840.1",
"protein_id": "ENSP00000528899.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858840.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000921311.1",
"protein_id": "ENSP00000591370.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921311.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000921312.1",
"protein_id": "ENSP00000591371.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921312.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000921315.1",
"protein_id": "ENSP00000591374.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921315.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAT",
"gene_hgnc_id": 8091,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"transcript": "ENST00000921319.1",
"protein_id": "ENSP00000591378.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 439,
"cds_start": 722,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921319.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Ornithine aminotransferase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}