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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: 10-12069055-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12069055&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DHTKD1",
"hgnc_id": 23537,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_018706.7",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000294071",
"hgnc_id": null,
"hgvs_c": "n.-175C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000720767.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.149,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "2-aminoadipic 2-oxoadipic aciduria",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07585719227790833,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2760,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_018706.7",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263035.9",
"protein_coding": true,
"protein_id": "NP_061176.4",
"strand": true,
"transcript": "NM_018706.7",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2760,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000263035.9",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018706.7",
"protein_coding": true,
"protein_id": "ENSP00000263035.4",
"strand": true,
"transcript": "ENST00000263035.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 946,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 99,
"cds_end": null,
"cds_length": 2841,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889958.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560017.1",
"strand": true,
"transcript": "ENST00000889958.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5159,
"cdna_start": 87,
"cds_end": null,
"cds_length": 2757,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940762.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610821.1",
"strand": true,
"transcript": "ENST00000940762.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 914,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 86,
"cds_end": null,
"cds_length": 2745,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000951900.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621959.1",
"strand": true,
"transcript": "ENST00000951900.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 906,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2721,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000951894.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621953.1",
"strand": true,
"transcript": "ENST00000951894.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 890,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2673,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889962.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560021.1",
"strand": true,
"transcript": "ENST00000889962.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 884,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2655,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889960.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560019.1",
"strand": true,
"transcript": "ENST00000889960.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 867,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2604,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889956.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560015.1",
"strand": true,
"transcript": "ENST00000889956.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 864,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4474,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2595,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889952.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560011.1",
"strand": true,
"transcript": "ENST00000889952.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 833,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 124,
"cds_end": null,
"cds_length": 2502,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889955.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560014.1",
"strand": true,
"transcript": "ENST00000889955.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 124,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000889953.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000560012.1",
"strand": true,
"transcript": "ENST00000889953.1",
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},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889957.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560016.1",
"strand": true,
"transcript": "ENST00000889957.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 38,
"cds_end": null,
"cds_length": 2409,
"cds_start": 22,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889961.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560020.1",
"strand": true,
"transcript": "ENST00000889961.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 800,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2403,
"cds_start": 22,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000951892.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621951.1",
"strand": true,
"transcript": "ENST00000951892.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 781,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 99,
"cds_end": null,
"cds_length": 2346,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000951899.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621958.1",
"strand": true,
"transcript": "ENST00000951899.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000951895.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621954.1",
"strand": true,
"transcript": "ENST00000951895.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 86,
"cds_end": null,
"cds_length": 2325,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889959.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560018.1",
"strand": true,
"transcript": "ENST00000889959.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 99,
"cds_end": null,
"cds_length": 2232,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000951893.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621952.1",
"strand": true,
"transcript": "ENST00000951893.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 691,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 101,
"cds_end": null,
"cds_length": 2076,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940761.1",
"gene_hgnc_id": 23537,
"gene_symbol": "DHTKD1",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610820.1",
"strand": true,
"transcript": "ENST00000940761.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 605,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
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