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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: 6-33165778-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33165778&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "COL11A2",
"hgnc_id": 2187,
"hgvs_c": "c.4521G>A",
"hgvs_p": "p.Gln1507Gln",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_080680.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 4947,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "6",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " Dominant, autosomal dominant, autosomal recessive,Connective tissue disorder,Fibrochondrogenesis 2,Otospondylomegaepiphyseal dysplasia,Stickler Syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:9 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "Q",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 4748,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4521,
"consequences": [
"synonymous_variant"
],
"exon_count": 66,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_080680.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4521G>A",
"hgvs_p": "p.Gln1507Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "Q",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 4748,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4521,
"consequences": [
"synonymous_variant"
],
"exon_count": 66,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000341947.7",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4521G>A",
"hgvs_p": "p.Gln1507Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1676,
"aa_ref": "Q",
"aa_start": 1447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6242,
"cdna_start": 4568,
"cds_end": null,
"cds_length": 5031,
"cds_start": 4341,
"consequences": [
"synonymous_variant"
],
"exon_count": 65,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "NM_001424108.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4341G>A",
"hgvs_p": "p.Gln1447Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1676,
"aa_ref": "Q",
"aa_start": 1447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 4574,
"cds_end": null,
"cds_length": 5031,
"cds_start": 4341,
"consequences": [
"synonymous_variant"
],
"exon_count": 65,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "ENST00000930122.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4341G>A",
"hgvs_p": "p.Gln1447Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "Q",
"aa_start": 1421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6164,
"cdna_start": 4490,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4263,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 61,
"exon_rank_end": null,
"feature": "NM_080681.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4263G>A",
"hgvs_p": "p.Gln1421Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "Q",
"aa_start": 1421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6209,
"cdna_start": 4522,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4263,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 61,
"exon_rank_end": null,
"feature": "ENST00000374708.8",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4263G>A",
"hgvs_p": "p.Gln1421Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "Q",
"aa_start": 1421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6184,
"cdna_start": 4513,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4263,
"consequences": [
"synonymous_variant"
],
"exon_count": 65,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "ENST00000930121.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4263G>A",
"hgvs_p": "p.Gln1421Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1629,
"aa_ref": "Q",
"aa_start": 1400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6101,
"cdna_start": 4427,
"cds_end": null,
"cds_length": 4890,
"cds_start": 4200,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "NM_080679.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4200G>A",
"hgvs_p": "p.Gln1400Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "Q",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6213,
"cdna_start": 4539,
"cds_end": null,
"cds_length": 4365,
"cds_start": 3675,
"consequences": [
"synonymous_variant"
],
"exon_count": 66,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_001424109.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3675G>A",
"hgvs_p": "p.Gln1225Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "Q",
"aa_start": 1165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6033,
"cdna_start": 4359,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3495,
"consequences": [
"synonymous_variant"
],
"exon_count": 65,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "NM_001424110.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3495G>A",
"hgvs_p": "p.Gln1165Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "Q",
"aa_start": 1165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 4372,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3495,
"consequences": [
"synonymous_variant"
],
"exon_count": 65,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "NM_001424111.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3495G>A",
"hgvs_p": "p.Gln1165Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "Q",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2731,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2475,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001424112.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.2475G>A",
"hgvs_p": "p.Gln825Gln",
"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": "Q",
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"aa_length": 1736,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6687,
"cdna_start": 5013,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4521,
"consequences": [
"synonymous_variant"
],
"exon_count": 67,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "XM_017010250.2",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4521G>A",
"hgvs_p": "p.Gln1507Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "Q",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 4497,
"cds_start": 3807,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 58,
"exon_rank_end": null,
"feature": "XM_011514299.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3807G>A",
"hgvs_p": "p.Gln1269Gln",
"intron_rank": null,
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"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": "Q",
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"aa_length": 1454,
"aa_ref": "Q",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6226,
"cdna_start": 4552,
"cds_end": null,
"cds_length": 4365,
"cds_start": 3675,
"consequences": [
"synonymous_variant"
],
"exon_count": 66,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "XM_047418183.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3675G>A",
"hgvs_p": "p.Gln1225Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "Q",
"aa_start": 1209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5600,
"cdna_start": 3926,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3627,
"consequences": [
"synonymous_variant"
],
"exon_count": 60,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "XM_011514300.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3627G>A",
"hgvs_p": "p.Gln1209Gln",
"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": "Q",
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"aa_length": 1365,
"aa_ref": "Q",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5737,
"cdna_start": 4063,
"cds_end": null,
"cds_length": 4098,
"cds_start": 3408,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "XM_011514302.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Gln1136Gln",
"intron_rank": null,
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"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": "Q",
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"aa_ref": "Q",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5556,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3339,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "XM_017010251.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3339G>A",
"hgvs_p": "p.Gln1113Gln",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000477772.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "n.311G>A",
"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": "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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683572.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "n.327G>A",
"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": "ENST00000683572.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs114580597",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0030662944,
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"gnomad_exomes_ac": 4678,
"gnomad_exomes_af": 0.00320171,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_ac": 269,
"gnomad_genomes_af": 0.00176678,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 9,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Stickler Syndrome, Dominant|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Connective tissue disorder|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.819,
"pos": 33165778,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"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"
}
]
}