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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: 21-46132535-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46132535&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL6A2",
"hgnc_id": 2212,
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001849.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 6253,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1314,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "21",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Bethlem myopathy 1A,Collagen 6-related myopathy,Glutamate formiminotransferase deficiency,Myosclerosis,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:8",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007359057664871216,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001849.4",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300527.9",
"protein_coding": true,
"protein_id": "NP_001840.3",
"strand": true,
"transcript": "NM_001849.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000300527.9",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001849.4",
"protein_coding": true,
"protein_id": "ENSP00000300527.4",
"strand": true,
"transcript": "ENST00000300527.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "I",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 3316,
"cds_end": null,
"cds_length": 3255,
"cds_start": 3238,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857098.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3238A>C",
"hgvs_p": "p.Ile1080Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527157.1",
"strand": true,
"transcript": "ENST00000857098.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "I",
"aa_start": 1069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 3257,
"cds_end": null,
"cds_length": 3222,
"cds_start": 3205,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857103.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3205A>C",
"hgvs_p": "p.Ile1069Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527162.1",
"strand": true,
"transcript": "ENST00000857103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "I",
"aa_start": 1054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 3249,
"cds_end": null,
"cds_length": 3177,
"cds_start": 3160,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857092.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3160A>C",
"hgvs_p": "p.Ile1054Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527151.1",
"strand": true,
"transcript": "ENST00000857092.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "I",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 3164,
"cds_end": null,
"cds_length": 3129,
"cds_start": 3112,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000857106.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3112A>C",
"hgvs_p": "p.Ile1038Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527165.1",
"strand": true,
"transcript": "ENST00000857106.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "I",
"aa_start": 1029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 3169,
"cds_end": null,
"cds_length": 3102,
"cds_start": 3085,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968880.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3085A>C",
"hgvs_p": "p.Ile1029Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638939.1",
"strand": true,
"transcript": "ENST00000968880.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "I",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 3147,
"cds_end": null,
"cds_length": 3090,
"cds_start": 3073,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857101.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3073A>C",
"hgvs_p": "p.Ile1025Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527160.1",
"strand": true,
"transcript": "ENST00000857101.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 3189,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857090.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527149.1",
"strand": true,
"transcript": "ENST00000857090.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 3212,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857091.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527150.1",
"strand": true,
"transcript": "ENST00000857091.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 3120,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857094.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527153.1",
"strand": true,
"transcript": "ENST00000857094.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 3194,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000857096.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527155.1",
"strand": true,
"transcript": "ENST00000857096.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 3311,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000857100.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527159.1",
"strand": true,
"transcript": "ENST00000857100.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 3307,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857108.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527167.1",
"strand": true,
"transcript": "ENST00000857108.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 3577,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857109.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527168.1",
"strand": true,
"transcript": "ENST00000857109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 3138,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968878.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638937.1",
"strand": true,
"transcript": "ENST00000968878.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 3453,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968883.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638942.1",
"strand": true,
"transcript": "ENST00000968883.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1019,
"aa_ref": "I",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 3060,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000968884.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ile1015Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638943.1",
"strand": true,
"transcript": "ENST00000968884.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1017,
"aa_ref": "I",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 3054,
"cds_start": 3037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968879.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3037A>C",
"hgvs_p": "p.Ile1013Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638938.1",
"strand": true,
"transcript": "ENST00000968879.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "I",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 3098,
"cds_end": null,
"cds_length": 3051,
"cds_start": 3034,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000934972.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.3034A>C",
"hgvs_p": "p.Ile1012Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605031.1",
"strand": true,
"transcript": "ENST00000934972.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "I",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
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