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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: 3-9751138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9751138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9751138,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016821.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_002542.6",
"protein_id": "NP_002533.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 345,
"cds_start": 331,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344629.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002542.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000344629.12",
"protein_id": "ENSP00000342851.7",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 345,
"cds_start": 331,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002542.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344629.12"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000302036.12",
"protein_id": "ENSP00000306561.7",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 424,
"cds_start": 331,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302036.12"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000302003.11",
"protein_id": "ENSP00000305584.7",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 410,
"cds_start": 331,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302003.11"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000352937.6",
"protein_id": "ENSP00000344899.6",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 357,
"cds_start": 331,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352937.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_016821.3",
"protein_id": "NP_058214.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 424,
"cds_start": 331,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016821.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_016820.4",
"protein_id": "NP_058213.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 410,
"cds_start": 331,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016820.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_016826.3",
"protein_id": "NP_058434.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 357,
"cds_start": 331,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016826.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_016828.3",
"protein_id": "NP_058437.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 356,
"cds_start": 331,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016828.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000302008.12",
"protein_id": "ENSP00000305527.8",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 356,
"cds_start": 331,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302008.12"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_001434448.1",
"protein_id": "NP_001421377.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 335,
"cds_start": 331,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434448.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_001354650.2",
"protein_id": "NP_001341579.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 333,
"cds_start": 331,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354650.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000707074.1",
"protein_id": "ENSP00000516725.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 333,
"cds_start": 331,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707074.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_016819.4",
"protein_id": "NP_058212.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 324,
"cds_start": 331,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016819.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000339511.9",
"protein_id": "ENSP00000345520.5",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 324,
"cds_start": 331,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339511.9"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_016829.3",
"protein_id": "NP_058438.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 322,
"cds_start": 331,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016829.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000449570.6",
"protein_id": "ENSP00000403598.2",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 322,
"cds_start": 331,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449570.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_001434445.1",
"protein_id": "NP_001421374.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 319,
"cds_start": 331,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434445.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_001354651.2",
"protein_id": "NP_001341580.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 306,
"cds_start": 331,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354651.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_001354652.2",
"protein_id": "NP_001341581.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 290,
"cds_start": 331,
"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": "NM_001354652.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_001434450.1",
"protein_id": "NP_001421379.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 287,
"cds_start": 331,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434450.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "NM_001434447.1",
"protein_id": "NP_001421376.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 268,
"cds_start": 331,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434447.1"
},
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"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
}