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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: 2-36356368-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=36356368&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CRIM1",
"hgnc_id": 2359,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_016441.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0832,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25297242403030396,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6060,
"cdna_start": 591,
"cds_end": null,
"cds_length": 3111,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_016441.3",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280527.7",
"protein_coding": true,
"protein_id": "NP_057525.1",
"strand": true,
"transcript": "NM_016441.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6060,
"cdna_start": 591,
"cds_end": null,
"cds_length": 3111,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000280527.7",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016441.3",
"protein_coding": true,
"protein_id": "ENSP00000280527.2",
"strand": true,
"transcript": "ENST00000280527.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6068,
"cdna_start": 588,
"cds_end": null,
"cds_length": 3234,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000928039.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598098.1",
"strand": true,
"transcript": "ENST00000928039.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4198,
"cdna_start": 121,
"cds_end": null,
"cds_length": 3108,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000868088.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538147.1",
"strand": true,
"transcript": "ENST00000868088.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5935,
"cdna_start": 593,
"cds_end": null,
"cds_length": 3090,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965719.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635778.1",
"strand": true,
"transcript": "ENST00000965719.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 971,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5871,
"cdna_start": 600,
"cds_end": null,
"cds_length": 2916,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000928036.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598095.1",
"strand": true,
"transcript": "ENST00000928036.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 962,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5792,
"cdna_start": 638,
"cds_end": null,
"cds_length": 2889,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965717.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635776.1",
"strand": true,
"transcript": "ENST00000965717.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 955,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": 520,
"cds_end": null,
"cds_length": 2868,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000928040.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598099.1",
"strand": true,
"transcript": "ENST00000928040.1",
"transcript_support_level": null
},
{
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"aa_length": 954,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 590,
"cds_end": null,
"cds_length": 2865,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965720.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635779.1",
"strand": true,
"transcript": "ENST00000965720.1",
"transcript_support_level": null
},
{
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"aa_length": 897,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": 591,
"cds_end": null,
"cds_length": 2694,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965718.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635777.1",
"strand": true,
"transcript": "ENST00000965718.1",
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},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 588,
"cds_end": null,
"cds_length": 2694,
"cds_start": 76,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 1,
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"feature": "ENST00000965721.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635780.1",
"strand": true,
"transcript": "ENST00000965721.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 603,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000928037.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598096.1",
"strand": true,
"transcript": "ENST00000928037.1",
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},
{
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],
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"feature": "ENST00000928038.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598097.1",
"strand": true,
"transcript": "ENST00000928038.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 6183,
"cdna_start": 591,
"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
"exon_rank": 1,
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"feature": "XM_011532898.4",
"gene_hgnc_id": 2359,
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"hgvs_c": "c.76C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011531200.1",
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},
{
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],
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"feature": "XM_011532899.4",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011531201.1",
"strand": true,
"transcript": "XM_011532899.4",
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},
{
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"cds_end": null,
"cds_length": 3012,
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"consequences": [
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],
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"feature": "XM_011532901.4",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011531203.1",
"strand": true,
"transcript": "XM_011532901.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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],
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"feature": "XM_017004258.3",
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"transcript": "XM_017004258.3",
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},
{
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"feature": "XM_005264357.6",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
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"mane_plus": null,
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"strand": true,
"transcript": "XM_005264357.6",
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},
{
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"cdna_start": 591,
"cds_end": null,
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"cds_start": 76,
"consequences": [
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],
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"exon_rank": 1,
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"feature": "XM_017004259.2",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859748.1",
"strand": true,
"transcript": "XM_017004259.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 962,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5838,
"cdna_start": 591,
"cds_end": null,
"cds_length": 2889,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444642.1",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300598.1",
"strand": true,
"transcript": "XM_047444642.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 955,
"aa_ref": "L",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5817,
"cdna_start": 591,
"cds_end": null,
"cds_length": 2868,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017004260.3",
"gene_hgnc_id": 2359,
"gene_symbol": "CRIM1",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"intron_rank": null,
"intron_rank_end": null,
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