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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: 6-33166736-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33166736&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL11A2",
"hgnc_id": 2187,
"hgvs_c": "c.4322G>A",
"hgvs_p": "p.Gly1441Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_080680.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9855,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal dominant,Otospondylomegaepiphyseal dysplasia",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9940950870513916,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "G",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 4549,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4322,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "NM_080680.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4322G>A",
"hgvs_p": "p.Gly1441Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341947.7",
"protein_coding": true,
"protein_id": "NP_542411.2",
"strand": false,
"transcript": "NM_080680.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "G",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 4549,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4322,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "ENST00000341947.7",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4322G>A",
"hgvs_p": "p.Gly1441Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080680.3",
"protein_coding": true,
"protein_id": "ENSP00000339915.2",
"strand": false,
"transcript": "ENST00000341947.7",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1676,
"aa_ref": "G",
"aa_start": 1381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6242,
"cdna_start": 4369,
"cds_end": null,
"cds_length": 5031,
"cds_start": 4142,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": 58,
"exon_rank_end": null,
"feature": "NM_001424108.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4142G>A",
"hgvs_p": "p.Gly1381Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411037.1",
"strand": false,
"transcript": "NM_001424108.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1676,
"aa_ref": "G",
"aa_start": 1381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 4375,
"cds_end": null,
"cds_length": 5031,
"cds_start": 4142,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": 58,
"exon_rank_end": null,
"feature": "ENST00000930122.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4142G>A",
"hgvs_p": "p.Gly1381Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600181.1",
"strand": false,
"transcript": "ENST00000930122.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6164,
"cdna_start": 4291,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4064,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "NM_080681.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4064G>A",
"hgvs_p": "p.Gly1355Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542412.2",
"strand": false,
"transcript": "NM_080681.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6209,
"cdna_start": 4323,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4064,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "ENST00000374708.8",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4064G>A",
"hgvs_p": "p.Gly1355Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363840.4",
"strand": false,
"transcript": "ENST00000374708.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6184,
"cdna_start": 4314,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4064,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": 58,
"exon_rank_end": null,
"feature": "ENST00000930121.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4064G>A",
"hgvs_p": "p.Gly1355Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600180.1",
"strand": false,
"transcript": "ENST00000930121.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1629,
"aa_ref": "G",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6101,
"cdna_start": 4228,
"cds_end": null,
"cds_length": 4890,
"cds_start": 4001,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "NM_080679.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Gly1334Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542410.2",
"strand": false,
"transcript": "NM_080679.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "G",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6213,
"cdna_start": 4340,
"cds_end": null,
"cds_length": 4365,
"cds_start": 3476,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "NM_001424109.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3476G>A",
"hgvs_p": "p.Gly1159Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411038.1",
"strand": false,
"transcript": "NM_001424109.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "G",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6033,
"cdna_start": 4160,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": 58,
"exon_rank_end": null,
"feature": "NM_001424110.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Gly1099Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411039.1",
"strand": false,
"transcript": "NM_001424110.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "G",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 4173,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": 58,
"exon_rank_end": null,
"feature": "NM_001424111.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Gly1099Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411040.1",
"strand": false,
"transcript": "NM_001424111.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "G",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2532,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001424112.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Gly759Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411041.1",
"strand": false,
"transcript": "NM_001424112.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "G",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6687,
"cdna_start": 4814,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4322,
"consequences": [
"missense_variant"
],
"exon_count": 67,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "XM_017010250.2",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4322G>A",
"hgvs_p": "p.Gly1441Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865739.1",
"strand": false,
"transcript": "XM_017010250.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "G",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 3907,
"cds_end": null,
"cds_length": 4497,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_011514299.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3608G>A",
"hgvs_p": "p.Gly1203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512601.1",
"strand": false,
"transcript": "XM_011514299.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "G",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6226,
"cdna_start": 4353,
"cds_end": null,
"cds_length": 4365,
"cds_start": 3476,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "XM_047418183.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3476G>A",
"hgvs_p": "p.Gly1159Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274139.1",
"strand": false,
"transcript": "XM_047418183.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "G",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5600,
"cdna_start": 3727,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3428,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_011514300.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3428G>A",
"hgvs_p": "p.Gly1143Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512602.1",
"strand": false,
"transcript": "XM_011514300.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1365,
"aa_ref": "G",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5737,
"cdna_start": 3864,
"cds_end": null,
"cds_length": 4098,
"cds_start": 3209,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_011514302.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3209G>A",
"hgvs_p": "p.Gly1070Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512604.1",
"strand": false,
"transcript": "XM_011514302.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "G",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5556,
"cdna_start": 3683,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3140,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_017010251.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Gly1047Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865740.1",
"strand": false,
"transcript": "XM_017010251.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477772.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "n.273-920G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000477772.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1313,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683572.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "n.234+55G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683572.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121912946",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"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": "Pathogenic",
"phenotype_combined": "Otospondylomegaepiphyseal dysplasia, autosomal dominant",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.792,
"pos": 33166736,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.978,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_080680.3"
}
]
}