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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: 17-50191408-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50191408&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"inheritance_mode": "AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_000088.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9942,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " perinatal lethal,Osteogenesis imperfecta",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9946964979171753,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 4395,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_000088.4",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"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": "D",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 4395,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000225964.10",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"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": "D",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": 2326,
"cds_end": null,
"cds_length": 4392,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000861334.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"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": "D",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 4392,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000861339.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"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": "D",
"aa_end": null,
"aa_length": 1459,
"aa_ref": "G",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 2316,
"cds_end": null,
"cds_length": 4380,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000861340.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2195G>A",
"hgvs_p": "p.Gly732Asp",
"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": "D",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "G",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 4359,
"cds_start": 2174,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000861338.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Gly725Asp",
"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": "D",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 4341,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000861336.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"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": "D",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "G",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 4341,
"cds_start": 2156,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000861342.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2156G>A",
"hgvs_p": "p.Gly719Asp",
"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": "D",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4687,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 4296,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000919350.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Gly704Asp",
"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": "D",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 4269,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000861337.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"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": "D",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "G",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 2191,
"cds_end": null,
"cds_length": 4260,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000861344.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Gly692Asp",
"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": "D",
"aa_end": null,
"aa_length": 1398,
"aa_ref": "G",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 4197,
"cds_start": 2012,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011524341.2",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Gly671Asp",
"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": "D",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 4125,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_005257058.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Gly737Asp",
"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": "D",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "G",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 3477,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005257059.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Gly431Asp",
"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": 1428,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": null,
"cds_end": null,
"cds_length": 4287,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861343.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2127+380G>A",
"hgvs_p": null,
"intron_rank": 31,
"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": null,
"aa_end": null,
"aa_length": 1203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": null,
"cds_end": null,
"cds_length": 3612,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861341.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.1669-1300G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
"aa_end": null,
"aa_length": 1071,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": null,
"cds_end": null,
"cds_length": 3216,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861335.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.1057-484G>A",
"hgvs_p": null,
"intron_rank": 16,
"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": null,
"aa_end": null,
"aa_length": 930,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": 2793,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861333.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.1821+1586G>A",
"hgvs_p": null,
"intron_rank": 26,
"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": null,
"aa_end": null,
"aa_length": 921,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": null,
"cds_end": null,
"cds_length": 2766,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963828.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.1094-1925G>A",
"hgvs_p": null,
"intron_rank": 17,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000476387.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "n.559G>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": "ENST00000476387.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs72651651",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Osteogenesis imperfecta, perinatal lethal",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.867,
"pos": 50191408,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.997,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000088.4"
}
]
}