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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: 6-56064595-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=56064595&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL21A1",
"hgnc_id": 17025,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_030820.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9456,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9812966585159302,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_030820.4",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000244728.10",
"protein_coding": true,
"protein_id": "NP_110447.2",
"strand": false,
"transcript": "NM_030820.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000244728.10",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030820.4",
"protein_coding": true,
"protein_id": "ENSP00000244728.5",
"strand": false,
"transcript": "ENST00000244728.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 954,
"aa_ref": "G",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000370819.5",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2146G>C",
"hgvs_p": "p.Gly716Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359855.1",
"strand": false,
"transcript": "ENST00000370819.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000488912.5",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "n.*403G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433624.1",
"strand": false,
"transcript": "ENST00000488912.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000488912.5",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "n.*403G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433624.1",
"strand": false,
"transcript": "ENST00000488912.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 2461,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001318751.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305680.1",
"strand": false,
"transcript": "NM_001318751.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 954,
"aa_ref": "G",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 2342,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001318752.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2146G>C",
"hgvs_p": "p.Gly716Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305681.1",
"strand": false,
"transcript": "NM_001318752.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 355,
"aa_ref": "G",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1068,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318753.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Gly117Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305682.1",
"strand": false,
"transcript": "NM_001318753.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 509,
"cds_end": null,
"cds_length": 945,
"cds_start": 228,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318754.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.228G>C",
"hgvs_p": "p.Arg76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305683.1",
"strand": false,
"transcript": "NM_001318754.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011514924.3",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513226.1",
"strand": false,
"transcript": "XM_011514924.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011514925.4",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513227.1",
"strand": false,
"transcript": "XM_011514925.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011514926.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513228.1",
"strand": false,
"transcript": "XM_011514926.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011514927.1",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513229.1",
"strand": false,
"transcript": "XM_011514927.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 957,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047419383.1",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275339.1",
"strand": false,
"transcript": "XM_047419383.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 945,
"aa_ref": "G",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_006715223.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Gly707Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715286.1",
"strand": false,
"transcript": "XM_006715223.2",
"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": 2291,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000467045.5",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "n.508G>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": "ENST00000467045.5",
"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": 277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000467216.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "n.15G>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": "ENST00000467216.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NR_134849.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "n.2379G>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": "NR_134849.2",
"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": 4190,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NR_134850.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "n.2404G>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": "NR_134850.2",
"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": 4162,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NR_134851.2",
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"hgvs_c": "n.2376G>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": "NR_134851.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs763809803",
"effect": "missense_variant",
"frequency_reference_population": 0.000006587355,
"gene_hgnc_id": 17025,
"gene_symbol": "COL21A1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000658735,
"gnomad_genomes_homalt": 0,
"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": 5.3,
"pos": 56064595,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.954,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07000000029802322,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.07,
"transcript": "NM_030820.4"
}
]
}