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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: 6-33164336-ACG-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33164336&ref=ACG&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "COL11A2",
"hgnc_id": 2187,
"hgvs_c": "c.4999_5001delCGTinsTTA",
"hgvs_p": "p.Arg1667Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_080680.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "R",
"aa_start": 1667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 5228,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4999,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_080680.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4999_5001delCGTinsTTA",
"hgvs_p": "p.Arg1667Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341947.7",
"protein_coding": true,
"protein_id": "NP_542411.2",
"strand": false,
"transcript": "NM_080680.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "R",
"aa_start": 1667,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 5228,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4999,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341947.7",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4999_5001delCGTinsTTA",
"hgvs_p": "p.Arg1667Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080680.3",
"protein_coding": true,
"protein_id": "ENSP00000339915.2",
"strand": false,
"transcript": "ENST00000341947.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1676,
"aa_ref": "R",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6242,
"cdna_start": 5048,
"cds_end": null,
"cds_length": 5031,
"cds_start": 4819,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424108.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4819_4821delCGTinsTTA",
"hgvs_p": "p.Arg1607Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411037.1",
"strand": false,
"transcript": "NM_001424108.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1676,
"aa_ref": "R",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 5054,
"cds_end": null,
"cds_length": 5031,
"cds_start": 4819,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930122.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4819_4821delCGTinsTTA",
"hgvs_p": "p.Arg1607Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600181.1",
"strand": false,
"transcript": "ENST00000930122.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "R",
"aa_start": 1581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6164,
"cdna_start": 4970,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4741,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_080681.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4741_4743delCGTinsTTA",
"hgvs_p": "p.Arg1581Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542412.2",
"strand": false,
"transcript": "NM_080681.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "R",
"aa_start": 1581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6209,
"cdna_start": 5002,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4741,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374708.8",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4741_4743delCGTinsTTA",
"hgvs_p": "p.Arg1581Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363840.4",
"strand": false,
"transcript": "ENST00000374708.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1650,
"aa_ref": "R",
"aa_start": 1581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6184,
"cdna_start": 4993,
"cds_end": null,
"cds_length": 4953,
"cds_start": 4741,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930121.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4741_4743delCGTinsTTA",
"hgvs_p": "p.Arg1581Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600180.1",
"strand": false,
"transcript": "ENST00000930121.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1629,
"aa_ref": "R",
"aa_start": 1560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6101,
"cdna_start": 4907,
"cds_end": null,
"cds_length": 4890,
"cds_start": 4678,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_080679.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4678_4680delCGTinsTTA",
"hgvs_p": "p.Arg1560Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542410.2",
"strand": false,
"transcript": "NM_080679.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "R",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6213,
"cdna_start": 5019,
"cds_end": null,
"cds_length": 4365,
"cds_start": 4153,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424109.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4153_4155delCGTinsTTA",
"hgvs_p": "p.Arg1385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411038.1",
"strand": false,
"transcript": "NM_001424109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "R",
"aa_start": 1325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6033,
"cdna_start": 4839,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3973,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424110.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3973_3975delCGTinsTTA",
"hgvs_p": "p.Arg1325Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411039.1",
"strand": false,
"transcript": "NM_001424110.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "R",
"aa_start": 1325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 4852,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3973,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424111.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3973_3975delCGTinsTTA",
"hgvs_p": "p.Arg1325Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411040.1",
"strand": false,
"transcript": "NM_001424111.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "R",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2953,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424112.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.2953_2955delCGTinsTTA",
"hgvs_p": "p.Arg985Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411041.1",
"strand": false,
"transcript": "NM_001424112.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "R",
"aa_start": 1667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6687,
"cdna_start": 5493,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4999,
"consequences": [
"missense_variant"
],
"exon_count": 67,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010250.2",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4999_5001delCGTinsTTA",
"hgvs_p": "p.Arg1667Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865739.1",
"strand": false,
"transcript": "XM_017010250.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "R",
"aa_start": 1429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 4586,
"cds_end": null,
"cds_length": 4497,
"cds_start": 4285,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514299.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4285_4287delCGTinsTTA",
"hgvs_p": "p.Arg1429Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512601.1",
"strand": false,
"transcript": "XM_011514299.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "R",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6226,
"cdna_start": 5032,
"cds_end": null,
"cds_length": 4365,
"cds_start": 4153,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418183.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4153_4155delCGTinsTTA",
"hgvs_p": "p.Arg1385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274139.1",
"strand": false,
"transcript": "XM_047418183.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 1369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5600,
"cdna_start": 4406,
"cds_end": null,
"cds_length": 4317,
"cds_start": 4105,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514300.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.4105_4107delCGTinsTTA",
"hgvs_p": "p.Arg1369Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512602.1",
"strand": false,
"transcript": "XM_011514300.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1365,
"aa_ref": "R",
"aa_start": 1296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5737,
"cdna_start": 4543,
"cds_end": null,
"cds_length": 4098,
"cds_start": 3886,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514302.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3886_3888delCGTinsTTA",
"hgvs_p": "p.Arg1296Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512604.1",
"strand": false,
"transcript": "XM_011514302.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "R",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5556,
"cdna_start": 4362,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3817,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010251.3",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "c.3817_3819delCGTinsTTA",
"hgvs_p": "p.Arg1273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865740.1",
"strand": false,
"transcript": "XM_017010251.3",
"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": 1984,
"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": "ENST00000477772.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "n.789_791delCGTinsTTA",
"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": "ENST00000477772.1",
"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": 1313,
"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": "ENST00000683572.1",
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"hgvs_c": "n.805_807delCGTinsTTA",
"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": "ENST00000683572.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2187,
"gene_symbol": "COL11A2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
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}
]
}