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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: 3-9756779-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9756779&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9756779,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001354650.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "NM_002542.6",
"protein_id": "NP_002533.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 345,
"cds_start": 911,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": "ENST00000344629.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002542.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "ENST00000344629.12",
"protein_id": "ENSP00000342851.7",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 345,
"cds_start": 911,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": "NM_002542.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344629.12"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "ENST00000302036.12",
"protein_id": "ENSP00000306561.7",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 424,
"cds_start": 911,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302036.12"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "ENST00000302003.11",
"protein_id": "ENSP00000305584.7",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 410,
"cds_start": 911,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302003.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000416333.1",
"protein_id": "ENSP00000402713.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 130,
"cds_start": 209,
"cds_end": null,
"cds_length": 394,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416333.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.747+1894G>T",
"hgvs_p": null,
"transcript": "ENST00000352937.6",
"protein_id": "ENSP00000344899.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352937.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "n.60G>T",
"hgvs_p": null,
"transcript": "ENST00000383825.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 472,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000383825.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "NM_001354650.2",
"protein_id": "NP_001341579.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 333,
"cds_start": 760,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354650.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "ENST00000707074.1",
"protein_id": "ENSP00000516725.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 333,
"cds_start": 760,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707074.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "NM_001354652.2",
"protein_id": "NP_001341581.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 290,
"cds_start": 760,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354652.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "NM_001434450.1",
"protein_id": "NP_001421379.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 287,
"cds_start": 760,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434450.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "XM_017006493.3",
"protein_id": "XP_016861982.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 354,
"cds_start": 760,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006493.3"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "XM_017006494.3",
"protein_id": "XP_016861983.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 339,
"cds_start": 760,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006494.3"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "XM_017006495.3",
"protein_id": "XP_016861984.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 336,
"cds_start": 760,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006495.3"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "XM_017006497.3",
"protein_id": "XP_016861986.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 322,
"cds_start": 760,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006497.3"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*",
"transcript": "XM_047448201.1",
"protein_id": "XP_047304157.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 287,
"cds_start": 760,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448201.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "NM_016821.3",
"protein_id": "NP_058214.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 424,
"cds_start": 911,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016821.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "NM_016820.4",
"protein_id": "NP_058213.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 410,
"cds_start": 911,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016820.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "NM_016828.3",
"protein_id": "NP_058437.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 356,
"cds_start": 911,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016828.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "ENST00000302008.12",
"protein_id": "ENSP00000305527.8",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 356,
"cds_start": 911,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302008.12"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "NM_001434448.1",
"protein_id": "NP_001421377.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 335,
"cds_start": 911,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434448.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "NM_016819.4",
"protein_id": "NP_058212.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 324,
"cds_start": 911,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016819.4"
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"spliceai_max_score": 0.29,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001354650.2",
"gene_symbol": "OGG1",
"hgnc_id": 8125,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}