← 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: X-108250180-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=108250180&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 108250180,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000334504.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "NM_033641.4",
"protein_id": "NP_378667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1690,
"cds_start": -4,
"cds_end": null,
"cds_length": 5073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": "ENST00000334504.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "ENST00000334504.12",
"protein_id": "ENSP00000334733.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1690,
"cds_start": -4,
"cds_end": null,
"cds_length": 5073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": "NM_033641.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "ENST00000372216.8",
"protein_id": "ENSP00000361290.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": -4,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "ENST00000621266.4",
"protein_id": "ENSP00000482970.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1666,
"cds_start": -4,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "ENST00000538570.5",
"protein_id": "ENSP00000445236.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1633,
"cds_start": -4,
"cds_end": null,
"cds_length": 4902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "NM_001287758.2",
"protein_id": "NP_001274687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": -4,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "ENST00000394872.6",
"protein_id": "ENSP00000378340.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": -4,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "NM_001847.4",
"protein_id": "NP_001838.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": -4,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "NM_001287759.2",
"protein_id": "NP_001274688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1666,
"cds_start": -4,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "NM_001287760.2",
"protein_id": "NP_001274689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1633,
"cds_start": -4,
"cds_end": null,
"cds_length": 4902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "NM_001440759.1",
"protein_id": "NP_001427688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": -4,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "NM_001440760.1",
"protein_id": "NP_001427689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": -4,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "n.249-28806G>A",
"hgvs_p": null,
"transcript": "ENST00000468338.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "XM_006724617.4",
"protein_id": "XP_006724680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1708,
"cds_start": -4,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "XM_011530852.3",
"protein_id": "XP_011529154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1684,
"cds_start": -4,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "XM_047441813.1",
"protein_id": "XP_047297769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1667,
"cds_start": -4,
"cds_end": null,
"cds_length": 5004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "XM_011530854.3",
"protein_id": "XP_011529156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": -4,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "XM_047441815.1",
"protein_id": "XP_047297771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1265,
"cds_start": -4,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.148-28806G>A",
"hgvs_p": null,
"transcript": "XM_047441818.1",
"protein_id": "XP_047297774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": -4,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null,
"transcript": "XM_047441819.1",
"protein_id": "XP_047297775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": -4,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"hgvs_c": "n.235-28806G>A",
"hgvs_p": null,
"transcript": "XR_001755650.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL4A6",
"gene_hgnc_id": 2208,
"dbsnp": "rs1266754",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.630215,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 69260,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 16932,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.473,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000334504.12",
"gene_symbol": "COL4A6",
"hgnc_id": 2208,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.145-28806G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}