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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: 21-46119049-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46119049&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL6A2",
"hgnc_id": 2212,
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001849.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8671,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "21",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Bethlem myopathy 1A",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9967960119247437,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001849.4",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000300527.9",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_058174.3",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 918,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000397763.6",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "C",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "W",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 3255,
"cds_start": 1263,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857098.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1263G>T",
"hgvs_p": "p.Trp421Cys",
"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": "C",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "W",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 3222,
"cds_start": 1263,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857103.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1263G>T",
"hgvs_p": "p.Trp421Cys",
"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": "V",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 3177,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857092.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 3129,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857106.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1268G>T",
"hgvs_p": "p.Gly423Val",
"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": "V",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 3102,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968880.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 3090,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857101.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857090.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857091.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857094.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857096.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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
},
{
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"aa_length": 1019,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857100.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857108.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
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],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857109.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
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"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968878.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968883.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968884.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"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": "V",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
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