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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: 9-133670734-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133670734&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SARDH",
"hgnc_id": 10536,
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_007101.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 4826,
"alphamissense_prediction": null,
"alphamissense_score": 0.0934,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01797667145729065,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3215,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001134707.2",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439388.6",
"protein_coding": true,
"protein_id": "NP_001128179.1",
"strand": false,
"transcript": "NM_001134707.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3215,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000439388.6",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001134707.2",
"protein_coding": true,
"protein_id": "ENSP00000403084.1",
"strand": false,
"transcript": "ENST00000439388.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000371872.8",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360938.4",
"strand": false,
"transcript": "ENST00000371872.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 978,
"aa_ref": "A",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 2805,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2525,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000859366.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2525C>T",
"hgvs_p": "p.Ala842Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529425.1",
"strand": false,
"transcript": "ENST00000859366.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 947,
"aa_ref": "A",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2432,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000859363.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ala811Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529422.1",
"strand": false,
"transcript": "ENST00000859363.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 947,
"aa_ref": "A",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2432,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000859364.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ala811Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529423.1",
"strand": false,
"transcript": "ENST00000859364.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 947,
"aa_ref": "A",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 2561,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2432,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000859370.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2432C>T",
"hgvs_p": "p.Ala811Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529429.1",
"strand": false,
"transcript": "ENST00000859370.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 925,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2366,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859367.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2366C>T",
"hgvs_p": "p.Ala789Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529426.1",
"strand": false,
"transcript": "ENST00000859367.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 2638,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_007101.4",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009032.2",
"strand": false,
"transcript": "NM_007101.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 2677,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859362.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529421.1",
"strand": false,
"transcript": "ENST00000859362.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 918,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859369.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529428.1",
"strand": false,
"transcript": "ENST00000859369.1",
"transcript_support_level": null
},
{
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"aa_length": 918,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3226,
"cdna_start": 2489,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859372.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529431.1",
"strand": false,
"transcript": "ENST00000859372.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 2454,
"cds_end": null,
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"cds_start": 2345,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859373.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529432.1",
"strand": false,
"transcript": "ENST00000859373.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 918,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3246,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859374.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529433.1",
"strand": false,
"transcript": "ENST00000859374.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_length": 3310,
"cdna_start": 2573,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859375.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2345C>T",
"hgvs_p": "p.Ala782Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529434.1",
"strand": false,
"transcript": "ENST00000859375.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 2754,
"cds_start": 2342,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859365.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2342C>T",
"hgvs_p": "p.Ala781Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529424.1",
"strand": false,
"transcript": "ENST00000859365.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 890,
"aa_ref": "A",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 2389,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2261,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000859371.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2261C>T",
"hgvs_p": "p.Ala754Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529430.1",
"strand": false,
"transcript": "ENST00000859371.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 2480,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2240,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000859368.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.2240C>T",
"hgvs_p": "p.Ala747Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529427.1",
"strand": false,
"transcript": "ENST00000859368.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 753,
"aa_ref": "A",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1850,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000928146.1",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Ala617Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598205.1",
"strand": false,
"transcript": "ENST00000928146.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 368,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1107,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371868.5",
"gene_hgnc_id": 10536,
"gene_symbol": "SARDH",
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Ala210Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360934.1",
"strand": false,
"transcript": "ENST00000371868.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2345,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047422894.1",
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