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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: 2-237340479-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237340479&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL6A3",
"hgnc_id": 2213,
"hgvs_c": "c.8437G>C",
"hgvs_p": "p.Gly2813Arg",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004369.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9189,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8096708059310913,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3177,
"aa_ref": "G",
"aa_start": 2813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10532,
"cdna_start": 8679,
"cds_end": null,
"cds_length": 9534,
"cds_start": 8437,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_004369.4",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.8437G>C",
"hgvs_p": "p.Gly2813Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295550.9",
"protein_coding": true,
"protein_id": "NP_004360.2",
"strand": false,
"transcript": "NM_004369.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3177,
"aa_ref": "G",
"aa_start": 2813,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10532,
"cdna_start": 8679,
"cds_end": null,
"cds_length": 9534,
"cds_start": 8437,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000295550.9",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.8437G>C",
"hgvs_p": "p.Gly2813Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004369.4",
"protein_coding": true,
"protein_id": "ENSP00000295550.4",
"strand": false,
"transcript": "ENST00000295550.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2570,
"aa_ref": "G",
"aa_start": 2206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8628,
"cdna_start": 6842,
"cds_end": null,
"cds_length": 7713,
"cds_start": 6616,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000472056.5",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.6616G>C",
"hgvs_p": "p.Gly2206Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418285.1",
"strand": false,
"transcript": "ENST00000472056.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2971,
"aa_ref": "G",
"aa_start": 2607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9914,
"cdna_start": 8061,
"cds_end": null,
"cds_length": 8916,
"cds_start": 7819,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_057167.4",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.7819G>C",
"hgvs_p": "p.Gly2607Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_476508.2",
"strand": false,
"transcript": "NM_057167.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2971,
"aa_ref": "G",
"aa_start": 2607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9636,
"cdna_start": 8069,
"cds_end": null,
"cds_length": 8916,
"cds_start": 7819,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000353578.9",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.7819G>C",
"hgvs_p": "p.Gly2607Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315873.4",
"strand": false,
"transcript": "ENST00000353578.9",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2570,
"aa_ref": "G",
"aa_start": 2206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8711,
"cdna_start": 6858,
"cds_end": null,
"cds_length": 7713,
"cds_start": 6616,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_057166.5",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.6616G>C",
"hgvs_p": "p.Gly2206Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_476507.3",
"strand": false,
"transcript": "NM_057166.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2569,
"aa_ref": "G",
"aa_start": 2205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8948,
"cdna_start": 7096,
"cds_end": null,
"cds_length": 7710,
"cds_start": 6613,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000952249.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.6613G>C",
"hgvs_p": "p.Gly2205Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622308.1",
"strand": false,
"transcript": "ENST00000952249.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2427,
"aa_ref": "G",
"aa_start": 2063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8290,
"cdna_start": 6436,
"cds_end": null,
"cds_length": 7284,
"cds_start": 6187,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000952251.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.6187G>C",
"hgvs_p": "p.Gly2063Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622310.1",
"strand": false,
"transcript": "ENST00000952251.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2375,
"aa_ref": "G",
"aa_start": 2011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8133,
"cdna_start": 6280,
"cds_end": null,
"cds_length": 7128,
"cds_start": 6031,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000952252.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.6031G>C",
"hgvs_p": "p.Gly2011Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622311.1",
"strand": false,
"transcript": "ENST00000952252.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 637,
"aa_ref": "G",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000347401.8",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.1081G>C",
"hgvs_p": "p.Gly361Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315609.5",
"strand": false,
"transcript": "ENST00000347401.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 889,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": null,
"cds_end": null,
"cds_length": 2670,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952250.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.2465-14755G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622309.1",
"strand": false,
"transcript": "ENST00000952250.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 98,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": null,
"cds_end": null,
"cds_length": 297,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888366.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "c.92-14755G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558425.1",
"strand": false,
"transcript": "ENST00000888366.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000468792.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "n.124G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468792.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6731,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000491769.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "n.4879G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491769.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000682957.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "n.439G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507870.1",
"strand": false,
"transcript": "ENST00000682957.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684508.1",
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"hgvs_c": "n.704G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000684508.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146131332",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2213,
"gene_symbol": "COL6A3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.571,
"pos": 237340479,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.485,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004369.4"
}
]
}