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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: 3-9757813-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9757813&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9757813,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003656.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val",
"transcript": "NM_003656.5",
"protein_id": "NP_003647.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 370,
"cds_start": 946,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256460.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003656.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val",
"transcript": "ENST00000256460.8",
"protein_id": "ENSP00000256460.3",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 370,
"cds_start": 946,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003656.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256460.8"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.948+997T>C",
"hgvs_p": null,
"transcript": "ENST00000302036.12",
"protein_id": "ENSP00000306561.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"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": 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+2928T>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352937.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.1135A>G",
"hgvs_p": "p.Met379Val",
"transcript": "ENST00000962076.1",
"protein_id": "ENSP00000632135.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 433,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962076.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.991A>G",
"hgvs_p": "p.Met331Val",
"transcript": "ENST00000962077.1",
"protein_id": "ENSP00000632136.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 385,
"cds_start": 991,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962077.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val",
"transcript": "ENST00000856591.1",
"protein_id": "ENSP00000526650.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 370,
"cds_start": 946,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856591.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val",
"transcript": "ENST00000856594.1",
"protein_id": "ENSP00000526653.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 370,
"cds_start": 946,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856594.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val",
"transcript": "ENST00000856596.1",
"protein_id": "ENSP00000526655.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 370,
"cds_start": 946,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856596.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val",
"transcript": "ENST00000856597.1",
"protein_id": "ENSP00000526656.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 367,
"cds_start": 946,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856597.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Met301Val",
"transcript": "ENST00000856595.1",
"protein_id": "ENSP00000526654.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 355,
"cds_start": 901,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856595.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Met297Val",
"transcript": "ENST00000856592.1",
"protein_id": "ENSP00000526651.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 351,
"cds_start": 889,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856592.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Met272Val",
"transcript": "ENST00000856593.1",
"protein_id": "ENSP00000526652.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 326,
"cds_start": 814,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856593.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Met162Val",
"transcript": "ENST00000421120.1",
"protein_id": "ENSP00000393238.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 259,
"cds_start": 484,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421120.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val",
"transcript": "XM_005265516.3",
"protein_id": "XP_005265573.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 413,
"cds_start": 946,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265516.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Met272Val",
"transcript": "XM_005265517.4",
"protein_id": "XP_005265574.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 369,
"cds_start": 814,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265517.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1",
"gene_hgnc_id": 1459,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Met272Val",
"transcript": "XM_017007354.2",
"protein_id": "XP_016862843.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 326,
"cds_start": 814,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007354.2"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.948+997T>C",
"hgvs_p": null,
"transcript": "NM_016821.3",
"protein_id": "NP_058214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"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": 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+2928T>C",
"hgvs_p": null,
"transcript": "NM_016826.3",
"protein_id": "NP_058434.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016826.3"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.948+997T>C",
"hgvs_p": null,
"transcript": "NM_016828.3",
"protein_id": "NP_058437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.948+997T>C",
"hgvs_p": null,
"transcript": "ENST00000302008.12",
"protein_id": "ENSP00000305527.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGG1",
"gene_hgnc_id": 8125,
"hgvs_c": "c.948+997T>C",
"hgvs_p": null,
"transcript": "NM_001434448.1",
"protein_id": "NP_001421377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"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": null,
"aa_alt": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003656.5",
"gene_symbol": "CAMK1",
"hgnc_id": 1459,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Met316Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016821.3",
"gene_symbol": "OGG1",
"hgnc_id": 8125,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.948+997T>C",
"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
}