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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: 10-12089082-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12089082&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 12089082,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018706.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "NM_018706.7",
"protein_id": "NP_061176.4",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 919,
"cds_start": 814,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "ENST00000263035.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018706.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000263035.9",
"protein_id": "ENSP00000263035.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 919,
"cds_start": 814,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "NM_018706.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263035.9"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000889958.1",
"protein_id": "ENSP00000560017.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 946,
"cds_start": 814,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889958.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000940762.1",
"protein_id": "ENSP00000610821.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 918,
"cds_start": 814,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940762.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000951900.1",
"protein_id": "ENSP00000621959.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 914,
"cds_start": 814,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951900.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000951894.1",
"protein_id": "ENSP00000621953.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 906,
"cds_start": 814,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951894.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000889962.1",
"protein_id": "ENSP00000560021.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 890,
"cds_start": 814,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889962.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.709T>C",
"hgvs_p": "p.Tyr237His",
"transcript": "ENST00000889960.1",
"protein_id": "ENSP00000560019.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 884,
"cds_start": 709,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889960.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.658T>C",
"hgvs_p": "p.Tyr220His",
"transcript": "ENST00000889956.1",
"protein_id": "ENSP00000560015.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 867,
"cds_start": 658,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889956.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000889952.1",
"protein_id": "ENSP00000560011.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 864,
"cds_start": 814,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889952.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000889955.1",
"protein_id": "ENSP00000560014.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 833,
"cds_start": 814,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889955.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.658T>C",
"hgvs_p": "p.Tyr220His",
"transcript": "ENST00000889957.1",
"protein_id": "ENSP00000560016.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 812,
"cds_start": 658,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889957.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Tyr155His",
"transcript": "ENST00000889961.1",
"protein_id": "ENSP00000560020.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 802,
"cds_start": 463,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889961.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.658T>C",
"hgvs_p": "p.Tyr220His",
"transcript": "ENST00000951899.1",
"protein_id": "ENSP00000621958.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 781,
"cds_start": 658,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951899.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000940761.1",
"protein_id": "ENSP00000610820.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 691,
"cds_start": 814,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940761.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Tyr272His",
"transcript": "ENST00000889954.1",
"protein_id": "ENSP00000560013.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 605,
"cds_start": 814,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889954.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.619T>C",
"hgvs_p": "p.Tyr207His",
"transcript": "ENST00000437298.1",
"protein_id": "ENSP00000388163.1",
"transcript_support_level": 3,
"aa_start": 207,
"aa_end": null,
"aa_length": 306,
"cds_start": 619,
"cds_end": null,
"cds_length": 923,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437298.1"
},
{
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.717+1353T>C",
"hgvs_p": null,
"transcript": "ENST00000889953.1",
"protein_id": "ENSP00000560012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889953.1"
},
{
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.717+1353T>C",
"hgvs_p": null,
"transcript": "ENST00000951892.1",
"protein_id": "ENSP00000621951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951892.1"
},
{
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.561+1353T>C",
"hgvs_p": null,
"transcript": "ENST00000951895.1",
"protein_id": "ENSP00000621954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951895.1"
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.717+1353T>C",
"hgvs_p": null,
"transcript": "ENST00000889959.1",
"protein_id": "ENSP00000560018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": null,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889959.1"
},
{
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.717+1353T>C",
"hgvs_p": null,
"transcript": "ENST00000951893.1",
"protein_id": "ENSP00000621952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.11,
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}