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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: 21-46126141-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46126141&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "COL6A2",
"hgnc_id": 2212,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001849.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 81,
"alphamissense_prediction": null,
"alphamissense_score": 0.2283,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "21",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Bethlem myopathy 1A,Collagen 6-related myopathy,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4837779402732849,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001849.4",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000300527.9",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_058174.3",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000397763.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_478054.2",
"strand": true,
"transcript": "NM_058174.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000397763.6",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_058174.3",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380870.1",
"strand": true,
"transcript": "ENST00000397763.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "A",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 3255,
"cds_start": 2521,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857098.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2521G>A",
"hgvs_p": "p.Ala841Thr",
"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": "T",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "A",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 2540,
"cds_end": null,
"cds_length": 3222,
"cds_start": 2488,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857103.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2488G>A",
"hgvs_p": "p.Ala830Thr",
"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": "T",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 2532,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857092.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2443G>A",
"hgvs_p": "p.Ala815Thr",
"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": "T",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "A",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2395,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857106.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2395G>A",
"hgvs_p": "p.Ala799Thr",
"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": "T",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "A",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2368,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000968880.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2368G>A",
"hgvs_p": "p.Ala790Thr",
"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": "T",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "A",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857101.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Ala786Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 2472,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857090.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 2495,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857091.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857094.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 2477,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857096.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857100.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857108.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 2860,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857109.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000968878.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000968883.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 2774,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000968884.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Ala776Thr",
"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": "T",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "A",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 28,
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