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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: 17-50185778-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50185778&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"hgvs_c": "c.4248G>A",
"hgvs_p": "p.Thr1416Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_000088.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Osteogenesis imperfecta type I,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "T",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 4366,
"cds_end": null,
"cds_length": 4395,
"cds_start": 4248,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_000088.4",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4248G>A",
"hgvs_p": "p.Thr1416Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000225964.10",
"protein_coding": true,
"protein_id": "NP_000079.2",
"strand": false,
"transcript": "NM_000088.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "T",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 4366,
"cds_end": null,
"cds_length": 4395,
"cds_start": 4248,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000225964.10",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4248G>A",
"hgvs_p": "p.Thr1416Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000088.4",
"protein_coding": true,
"protein_id": "ENSP00000225964.6",
"strand": false,
"transcript": "ENST00000225964.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "T",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": 4361,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4245,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861334.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4245G>A",
"hgvs_p": "p.Thr1415Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531393.1",
"strand": false,
"transcript": "ENST00000861334.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "T",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 4363,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4245,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861339.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4245G>A",
"hgvs_p": "p.Thr1415Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531398.1",
"strand": false,
"transcript": "ENST00000861339.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1459,
"aa_ref": "T",
"aa_start": 1411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 4354,
"cds_end": null,
"cds_length": 4380,
"cds_start": 4233,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861340.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4233G>A",
"hgvs_p": "p.Thr1411Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531399.1",
"strand": false,
"transcript": "ENST00000861340.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "T",
"aa_start": 1404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 4330,
"cds_end": null,
"cds_length": 4359,
"cds_start": 4212,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861338.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4212G>A",
"hgvs_p": "p.Thr1404Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531397.1",
"strand": false,
"transcript": "ENST00000861338.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "T",
"aa_start": 1398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 4312,
"cds_end": null,
"cds_length": 4341,
"cds_start": 4194,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861336.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4194G>A",
"hgvs_p": "p.Thr1398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531395.1",
"strand": false,
"transcript": "ENST00000861336.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "T",
"aa_start": 1398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 4312,
"cds_end": null,
"cds_length": 4341,
"cds_start": 4194,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861342.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4194G>A",
"hgvs_p": "p.Thr1398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531401.1",
"strand": false,
"transcript": "ENST00000861342.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "T",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4687,
"cdna_start": 4266,
"cds_end": null,
"cds_length": 4296,
"cds_start": 4149,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000919350.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4149G>A",
"hgvs_p": "p.Thr1383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589409.1",
"strand": false,
"transcript": "ENST00000919350.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1428,
"aa_ref": "T",
"aa_start": 1380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 4258,
"cds_end": null,
"cds_length": 4287,
"cds_start": 4140,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861343.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4140G>A",
"hgvs_p": "p.Thr1380Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531402.1",
"strand": false,
"transcript": "ENST00000861343.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "T",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 4240,
"cds_end": null,
"cds_length": 4269,
"cds_start": 4122,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861337.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4122G>A",
"hgvs_p": "p.Thr1374Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531396.1",
"strand": false,
"transcript": "ENST00000861337.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "T",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 4229,
"cds_end": null,
"cds_length": 4260,
"cds_start": 4113,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861344.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4113G>A",
"hgvs_p": "p.Thr1371Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531403.1",
"strand": false,
"transcript": "ENST00000861344.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "T",
"aa_start": 1155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 3583,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3465,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000861341.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3465G>A",
"hgvs_p": "p.Thr1155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531400.1",
"strand": false,
"transcript": "ENST00000861341.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "T",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 3216,
"cds_start": 3069,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000861335.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Thr1023Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531394.1",
"strand": false,
"transcript": "ENST00000861335.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 930,
"aa_ref": "T",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2646,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000861333.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2646G>A",
"hgvs_p": "p.Thr882Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531392.1",
"strand": false,
"transcript": "ENST00000861333.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 2733,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2619,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000963828.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2619G>A",
"hgvs_p": "p.Thr873Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633887.1",
"strand": false,
"transcript": "ENST00000963828.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1398,
"aa_ref": "T",
"aa_start": 1350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 4168,
"cds_end": null,
"cds_length": 4197,
"cds_start": 4050,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_011524341.2",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522643.1",
"strand": false,
"transcript": "XM_011524341.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "T",
"aa_start": 1326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": 4096,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3978,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_005257058.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3978G>A",
"hgvs_p": "p.Thr1326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257115.2",
"strand": false,
"transcript": "XM_005257058.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "T",
"aa_start": 1110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": 3448,
"cds_end": null,
"cds_length": 3477,
"cds_start": 3330,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_005257059.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3330G>A",
"hgvs_p": "p.Thr1110Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257116.2",
"strand": false,
"transcript": "XM_005257059.5",
"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": 1147,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510710.3",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "n.*66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000510710.3",
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}
],
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"dbscsnv_ada_prediction": "Pathogenic",
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"dbsnp": "rs746565111",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.000022312823,
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"gnomad_exomes_ac": 32,
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Osteogenesis imperfecta type I|Cardiovascular phenotype|not provided",
"phylop100way_prediction": "Benign",
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"pos": 50185778,
"ref": "C",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_000088.4"
}
]
}