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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: 12-122341597-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122341597&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122341597,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000620786.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asn536Ser",
"transcript": "NM_001247997.2",
"protein_id": "NP_001234926.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1438,
"cds_start": 1607,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": "ENST00000620786.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asn536Ser",
"transcript": "ENST00000620786.5",
"protein_id": "ENSP00000479322.1",
"transcript_support_level": 5,
"aa_start": 536,
"aa_end": null,
"aa_length": 1438,
"cds_start": 1607,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": "NM_001247997.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "ENST00000358808.6",
"protein_id": "ENSP00000351665.2",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 1427,
"cds_start": 1574,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "ENST00000537178.5",
"protein_id": "ENSP00000445531.1",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1469,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "n.1870A>G",
"hgvs_p": null,
"transcript": "ENST00000541410.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "NM_001389291.1",
"protein_id": "NP_001376220.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 2148,
"cds_start": 1469,
"cds_end": null,
"cds_length": 6447,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 8108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "NM_002956.3",
"protein_id": "NP_002947.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1427,
"cds_start": 1574,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "ENST00000302528.11",
"protein_id": "ENSP00000303585.7",
"transcript_support_level": 5,
"aa_start": 525,
"aa_end": null,
"aa_length": 1427,
"cds_start": 1574,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "NM_198240.3",
"protein_id": "NP_937883.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1469,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 5840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "ENST00000361654.8",
"protein_id": "ENSP00000355314.4",
"transcript_support_level": 5,
"aa_start": 490,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1469,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.827A>G",
"hgvs_p": "p.Asn276Ser",
"transcript": "ENST00000545889.6",
"protein_id": "ENSP00000438743.2",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 1063,
"cds_start": 827,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.Asn459Ser",
"transcript": "ENST00000540304.6",
"protein_id": "ENSP00000437786.2",
"transcript_support_level": 5,
"aa_start": 459,
"aa_end": null,
"aa_length": 801,
"cds_start": 1376,
"cds_end": null,
"cds_length": 2408,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asn536Ser",
"transcript": "XM_005253593.4",
"protein_id": "XP_005253650.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1607,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asn536Ser",
"transcript": "XM_047429307.1",
"protein_id": "XP_047285263.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1607,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "XM_006719552.5",
"protein_id": "XP_006719615.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1429,
"cds_start": 1574,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 5951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "XM_047429309.1",
"protein_id": "XP_047285265.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1429,
"cds_start": 1574,
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"cds_length": 4290,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "XM_047429310.1",
"protein_id": "XP_047285266.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1427,
"cds_start": 1574,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Asn501Ser",
"transcript": "XM_047429311.1",
"protein_id": "XP_047285267.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1405,
"cds_start": 1502,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Asn501Ser",
"transcript": "XM_047429312.1",
"protein_id": "XP_047285268.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1405,
"cds_start": 1502,
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"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 5879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Asn501Ser",
"transcript": "XM_047429313.1",
"protein_id": "XP_047285269.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1403,
"cds_start": 1502,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 5873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "XM_017019788.3",
"protein_id": "XP_016875277.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1394,
"cds_start": 1469,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "XM_017019789.2",
"protein_id": "XP_016875278.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1394,
"cds_start": 1469,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
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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
}