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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: 1-102962750-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=102962750&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 102962750,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000370096.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2927G>T",
"hgvs_p": "p.Gly976Val",
"transcript": "NM_001854.4",
"protein_id": "NP_001845.3",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1806,
"cds_start": 2927,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "ENST00000370096.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2927G>T",
"hgvs_p": "p.Gly976Val",
"transcript": "ENST00000370096.9",
"protein_id": "ENSP00000359114.3",
"transcript_support_level": 1,
"aa_start": 976,
"aa_end": null,
"aa_length": 1806,
"cds_start": 2927,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "NM_001854.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2579G>T",
"hgvs_p": "p.Gly860Val",
"transcript": "ENST00000512756.5",
"protein_id": "ENSP00000426533.1",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2579,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.*177G>T",
"hgvs_p": null,
"transcript": "ENST00000635193.1",
"protein_id": "ENSP00000489428.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.*177G>T",
"hgvs_p": null,
"transcript": "ENST00000635193.1",
"protein_id": "ENSP00000489428.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2963G>T",
"hgvs_p": "p.Gly988Val",
"transcript": "NM_080629.3",
"protein_id": "NP_542196.2",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1818,
"cds_start": 2963,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2963G>T",
"hgvs_p": "p.Gly988Val",
"transcript": "ENST00000358392.6",
"protein_id": "ENSP00000351163.2",
"transcript_support_level": 5,
"aa_start": 988,
"aa_end": null,
"aa_length": 1818,
"cds_start": 2963,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 3281,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2810G>T",
"hgvs_p": "p.Gly937Val",
"transcript": "NM_001190709.2",
"protein_id": "NP_001177638.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1767,
"cds_start": 2810,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2810G>T",
"hgvs_p": "p.Gly937Val",
"transcript": "ENST00000353414.8",
"protein_id": "ENSP00000302551.6",
"transcript_support_level": 5,
"aa_start": 937,
"aa_end": null,
"aa_length": 1767,
"cds_start": 2810,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 3128,
"cdna_end": null,
"cdna_length": 7173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2579G>T",
"hgvs_p": "p.Gly860Val",
"transcript": "NM_080630.4",
"protein_id": "NP_542197.3",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2579,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 6963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3080G>T",
"hgvs_p": "p.Gly1027Val",
"transcript": "XM_017000334.2",
"protein_id": "XP_016855823.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1857,
"cds_start": 3080,
"cds_end": null,
"cds_length": 5574,
"cdna_start": 3424,
"cdna_end": null,
"cdna_length": 7464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3074G>T",
"hgvs_p": "p.Gly1025Val",
"transcript": "XM_017000335.2",
"protein_id": "XP_016855824.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1855,
"cds_start": 3074,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 3418,
"cdna_end": null,
"cdna_length": 7458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3080G>T",
"hgvs_p": "p.Gly1027Val",
"transcript": "XM_017000336.2",
"protein_id": "XP_016855825.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3080,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 3424,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.1478G>T",
"hgvs_p": "p.Gly493Val",
"transcript": "XM_017000337.2",
"protein_id": "XP_016855826.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1323,
"cds_start": 1478,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.3287G>T",
"hgvs_p": null,
"transcript": "NR_134980.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.-66G>T",
"hgvs_p": null,
"transcript": "ENST00000465209.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"dbsnp": "rs121912944",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9943647384643555,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.994,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9968,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.818,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000370096.9",
"gene_symbol": "COL11A1",
"hgnc_id": 2186,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2927G>T",
"hgvs_p": "p.Gly976Val"
}
],
"clinvar_disease": "Marshall/Stickler syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Marshall/Stickler syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}