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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: 21-46125569-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46125569&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PP3_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL6A2",
"hgnc_id": 2212,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001849.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,BP6_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.2023,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "21",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Bethlem myopathy 1A",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8444459438323975,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001849.4",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000300527.9",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 918,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_058174.3",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 918,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000397763.6",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "V",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 3255,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857098.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2116G>A",
"hgvs_p": "p.Val706Met",
"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": "M",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "V",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 3222,
"cds_start": 2083,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857103.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2083G>A",
"hgvs_p": "p.Val695Met",
"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": "M",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "V",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2038,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857092.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2038G>A",
"hgvs_p": "p.Val680Met",
"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": "M",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "V",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 3129,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857106.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Met",
"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": "M",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "V",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 3102,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000968880.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Val655Met",
"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": "M",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "V",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 3090,
"cds_start": 1951,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857101.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Val651Met",
"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": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857090.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 2090,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857091.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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
},
{
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"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857094.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857096.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000857100.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857108.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
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"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000857109.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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
},
{
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"aa_length": 1019,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000968878.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
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"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000968883.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000968884.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Val641Met",
"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": "M",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 2003,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
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