← Back to variant description
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: 17-50185848-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50185848&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50185848,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000088.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4178C>T",
"hgvs_p": "p.Ser1393Phe",
"transcript": "NM_000088.4",
"protein_id": "NP_000079.2",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4178,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225964.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000088.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4178C>T",
"hgvs_p": "p.Ser1393Phe",
"transcript": "ENST00000225964.10",
"protein_id": "ENSP00000225964.6",
"transcript_support_level": 1,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4178,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000088.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225964.10"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4175C>T",
"hgvs_p": "p.Ser1392Phe",
"transcript": "ENST00000861334.1",
"protein_id": "ENSP00000531393.1",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4175,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861334.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4175C>T",
"hgvs_p": "p.Ser1392Phe",
"transcript": "ENST00000861339.1",
"protein_id": "ENSP00000531398.1",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4175,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861339.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4163C>T",
"hgvs_p": "p.Ser1388Phe",
"transcript": "ENST00000861340.1",
"protein_id": "ENSP00000531399.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1459,
"cds_start": 4163,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861340.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4142C>T",
"hgvs_p": "p.Ser1381Phe",
"transcript": "ENST00000861338.1",
"protein_id": "ENSP00000531397.1",
"transcript_support_level": null,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1452,
"cds_start": 4142,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861338.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4124C>T",
"hgvs_p": "p.Ser1375Phe",
"transcript": "ENST00000861336.1",
"protein_id": "ENSP00000531395.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1446,
"cds_start": 4124,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861336.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4124C>T",
"hgvs_p": "p.Ser1375Phe",
"transcript": "ENST00000861342.1",
"protein_id": "ENSP00000531401.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1446,
"cds_start": 4124,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861342.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4079C>T",
"hgvs_p": "p.Ser1360Phe",
"transcript": "ENST00000919350.1",
"protein_id": "ENSP00000589409.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1431,
"cds_start": 4079,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919350.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4070C>T",
"hgvs_p": "p.Ser1357Phe",
"transcript": "ENST00000861343.1",
"protein_id": "ENSP00000531402.1",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4070,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861343.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Ser1351Phe",
"transcript": "ENST00000861337.1",
"protein_id": "ENSP00000531396.1",
"transcript_support_level": null,
"aa_start": 1351,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4052,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861337.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.4043C>T",
"hgvs_p": "p.Ser1348Phe",
"transcript": "ENST00000861344.1",
"protein_id": "ENSP00000531403.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1419,
"cds_start": 4043,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861344.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3395C>T",
"hgvs_p": "p.Ser1132Phe",
"transcript": "ENST00000861341.1",
"protein_id": "ENSP00000531400.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861341.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2999C>T",
"hgvs_p": "p.Ser1000Phe",
"transcript": "ENST00000861335.1",
"protein_id": "ENSP00000531394.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2999,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861335.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2576C>T",
"hgvs_p": "p.Ser859Phe",
"transcript": "ENST00000861333.1",
"protein_id": "ENSP00000531392.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 930,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861333.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Ser850Phe",
"transcript": "ENST00000963828.1",
"protein_id": "ENSP00000633887.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 921,
"cds_start": 2549,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963828.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3980C>T",
"hgvs_p": "p.Ser1327Phe",
"transcript": "XM_011524341.2",
"protein_id": "XP_011522643.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3980,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524341.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3908C>T",
"hgvs_p": "p.Ser1303Phe",
"transcript": "XM_005257058.5",
"protein_id": "XP_005257115.2",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3908,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257058.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3260C>T",
"hgvs_p": "p.Ser1087Phe",
"transcript": "XM_005257059.5",
"protein_id": "XP_005257116.2",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3260,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257059.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "n.1143C>T",
"hgvs_p": null,
"transcript": "ENST00000510710.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000510710.3"
}
],
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"dbsnp": "rs774210351",
"frequency_reference_population": 0.000002736244,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273624,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.808038592338562,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.784,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3619,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.942,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000088.4",
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4178C>T",
"hgvs_p": "p.Ser1393Phe"
}
],
"clinvar_disease": "Osteogenesis imperfecta type I",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Osteogenesis imperfecta type I",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}