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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: 12-9068192-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9068192&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9068192,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000014.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4399T>G",
"hgvs_p": "p.Cys1467Gly",
"transcript": "NM_000014.6",
"protein_id": "NP_000005.3",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1474,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 4469,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": "ENST00000318602.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000014.6"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4399T>G",
"hgvs_p": "p.Cys1467Gly",
"transcript": "ENST00000318602.12",
"protein_id": "ENSP00000323929.8",
"transcript_support_level": 1,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1474,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 4469,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": "NM_000014.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318602.12"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4537T>G",
"hgvs_p": "p.Cys1513Gly",
"transcript": "ENST00000891833.1",
"protein_id": "ENSP00000561892.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1520,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 4607,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891833.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4399T>G",
"hgvs_p": "p.Cys1467Gly",
"transcript": "ENST00000956132.1",
"protein_id": "ENSP00000626191.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1501,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4506,
"cdna_start": 4469,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956132.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4429T>G",
"hgvs_p": "p.Cys1477Gly",
"transcript": "ENST00000956134.1",
"protein_id": "ENSP00000626193.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4429,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4499,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956134.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4399T>G",
"hgvs_p": "p.Cys1467Gly",
"transcript": "NM_001347423.2",
"protein_id": "NP_001334352.2",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1474,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 4518,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347423.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4399T>G",
"hgvs_p": "p.Cys1467Gly",
"transcript": "ENST00000891824.1",
"protein_id": "ENSP00000561883.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1474,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 4512,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891824.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4396T>G",
"hgvs_p": "p.Cys1466Gly",
"transcript": "ENST00000891825.1",
"protein_id": "ENSP00000561884.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1473,
"cds_start": 4396,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 4466,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891825.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4390T>G",
"hgvs_p": "p.Cys1464Gly",
"transcript": "ENST00000891834.1",
"protein_id": "ENSP00000561893.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1471,
"cds_start": 4390,
"cds_end": null,
"cds_length": 4416,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891834.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4390T>G",
"hgvs_p": "p.Cys1464Gly",
"transcript": "ENST00000956135.1",
"protein_id": "ENSP00000626194.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1471,
"cds_start": 4390,
"cds_end": null,
"cds_length": 4416,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956135.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4378T>G",
"hgvs_p": "p.Cys1460Gly",
"transcript": "ENST00000891829.1",
"protein_id": "ENSP00000561888.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4378,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 4448,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891829.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4360T>G",
"hgvs_p": "p.Cys1454Gly",
"transcript": "ENST00000956133.1",
"protein_id": "ENSP00000626192.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1461,
"cds_start": 4360,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4430,
"cdna_end": null,
"cdna_length": 4571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956133.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4252T>G",
"hgvs_p": "p.Cys1418Gly",
"transcript": "ENST00000891830.1",
"protein_id": "ENSP00000561889.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1425,
"cds_start": 4252,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 4322,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891830.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4237T>G",
"hgvs_p": "p.Cys1413Gly",
"transcript": "ENST00000956136.1",
"protein_id": "ENSP00000626195.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4237,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 4307,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956136.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4222T>G",
"hgvs_p": "p.Cys1408Gly",
"transcript": "ENST00000891826.1",
"protein_id": "ENSP00000561885.1",
"transcript_support_level": null,
"aa_start": 1408,
"aa_end": null,
"aa_length": 1415,
"cds_start": 4222,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 4292,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891826.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4183T>G",
"hgvs_p": "p.Cys1395Gly",
"transcript": "ENST00000891832.1",
"protein_id": "ENSP00000561891.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1402,
"cds_start": 4183,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891832.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4171T>G",
"hgvs_p": "p.Cys1391Gly",
"transcript": "ENST00000891831.1",
"protein_id": "ENSP00000561890.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1398,
"cds_start": 4171,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 4241,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891831.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4099T>G",
"hgvs_p": "p.Cys1367Gly",
"transcript": "NM_001347424.2",
"protein_id": "NP_001334353.2",
"transcript_support_level": null,
"aa_start": 1367,
"aa_end": null,
"aa_length": 1374,
"cds_start": 4099,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 4622,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347424.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.4003T>G",
"hgvs_p": "p.Cys1335Gly",
"transcript": "ENST00000891827.1",
"protein_id": "ENSP00000561886.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1342,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 4073,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891827.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3949T>G",
"hgvs_p": "p.Cys1317Gly",
"transcript": "NM_001347425.2",
"protein_id": "NP_001334354.2",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3949,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 4309,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347425.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3832T>G",
"hgvs_p": "p.Cys1278Gly",
"transcript": "ENST00000891828.1",
"protein_id": "ENSP00000561887.1",
"transcript_support_level": null,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3832,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891828.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.1066T>G",
"hgvs_p": "p.Cys356Gly",
"transcript": "ENST00000891835.1",
"protein_id": "ENSP00000561894.1",
"transcript_support_level": null,
"aa_start": 356,
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{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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},
{
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],
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}
],
"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
}