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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: X-108159454-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=108159454&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "COL4A6",
"hgnc_id": 2208,
"hgvs_c": "c.4863+8C>T",
"hgvs_p": null,
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001287758.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 56329,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": " X-linked 6,Hearing loss,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1690,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6685,
"cdna_start": null,
"cds_end": null,
"cds_length": 5073,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033641.4",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4812+8C>T",
"hgvs_p": null,
"intron_rank": 44,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334504.12",
"protein_coding": true,
"protein_id": "NP_378667.1",
"strand": false,
"transcript": "NM_033641.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1690,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6685,
"cdna_start": null,
"cds_end": null,
"cds_length": 5073,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334504.12",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4812+8C>T",
"hgvs_p": null,
"intron_rank": 44,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033641.4",
"protein_coding": true,
"protein_id": "ENSP00000334733.7",
"strand": false,
"transcript": "ENST00000334504.12",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1691,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6570,
"cdna_start": null,
"cds_end": null,
"cds_length": 5076,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372216.8",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4815+8C>T",
"hgvs_p": null,
"intron_rank": 44,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361290.4",
"strand": false,
"transcript": "ENST00000372216.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1666,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6627,
"cdna_start": null,
"cds_end": null,
"cds_length": 5001,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621266.4",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4740+8C>T",
"hgvs_p": null,
"intron_rank": 43,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482970.1",
"strand": false,
"transcript": "ENST00000621266.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1633,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6528,
"cdna_start": null,
"cds_end": null,
"cds_length": 4902,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538570.5",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4641+8C>T",
"hgvs_p": null,
"intron_rank": 42,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445236.1",
"strand": false,
"transcript": "ENST00000538570.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6736,
"cdna_start": null,
"cds_end": null,
"cds_length": 5124,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287758.2",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4863+8C>T",
"hgvs_p": null,
"intron_rank": 45,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274687.1",
"strand": false,
"transcript": "NM_001287758.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6750,
"cdna_start": null,
"cds_end": null,
"cds_length": 5124,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394872.6",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4863+8C>T",
"hgvs_p": null,
"intron_rank": 45,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378340.3",
"strand": false,
"transcript": "ENST00000394872.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1691,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6549,
"cdna_start": null,
"cds_end": null,
"cds_length": 5076,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001847.4",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4815+8C>T",
"hgvs_p": null,
"intron_rank": 44,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001838.2",
"strand": false,
"transcript": "NM_001847.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1676,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6675,
"cdna_start": null,
"cds_end": null,
"cds_length": 5031,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962005.1",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4770+8C>T",
"hgvs_p": null,
"intron_rank": 43,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632064.1",
"strand": false,
"transcript": "ENST00000962005.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1666,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6613,
"cdna_start": null,
"cds_end": null,
"cds_length": 5001,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287759.2",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4740+8C>T",
"hgvs_p": null,
"intron_rank": 43,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274688.1",
"strand": false,
"transcript": "NM_001287759.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1657,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6576,
"cdna_start": null,
"cds_end": null,
"cds_length": 4974,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913236.1",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4713+8C>T",
"hgvs_p": null,
"intron_rank": 43,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583295.1",
"strand": false,
"transcript": "ENST00000913236.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1633,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6514,
"cdna_start": null,
"cds_end": null,
"cds_length": 4902,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287760.2",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4641+8C>T",
"hgvs_p": null,
"intron_rank": 42,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274689.1",
"strand": false,
"transcript": "NM_001287760.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6506,
"cdna_start": null,
"cds_end": null,
"cds_length": 4896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913235.1",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4635+8C>T",
"hgvs_p": null,
"intron_rank": 42,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583294.1",
"strand": false,
"transcript": "ENST00000913235.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6472,
"cdna_start": null,
"cds_end": null,
"cds_length": 4848,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913234.1",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4587+8C>T",
"hgvs_p": null,
"intron_rank": 42,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583293.1",
"strand": false,
"transcript": "ENST00000913234.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1708,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6600,
"cdna_start": null,
"cds_end": null,
"cds_length": 5127,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006724617.4",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4866+8C>T",
"hgvs_p": null,
"intron_rank": 45,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724680.1",
"strand": false,
"transcript": "XM_006724617.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1684,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6528,
"cdna_start": null,
"cds_end": null,
"cds_length": 5055,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530852.3",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4794+8C>T",
"hgvs_p": null,
"intron_rank": 44,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529154.1",
"strand": false,
"transcript": "XM_011530852.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1680,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7345,
"cdna_start": null,
"cds_end": null,
"cds_length": 5043,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530853.4",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4782+8C>T",
"hgvs_p": null,
"intron_rank": 43,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529155.1",
"strand": false,
"transcript": "XM_011530853.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1667,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6477,
"cdna_start": null,
"cds_end": null,
"cds_length": 5004,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441813.1",
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"hgvs_c": "c.4743+8C>T",
"hgvs_p": null,
"intron_rank": 43,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297769.1",
"strand": false,
"transcript": "XM_047441813.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.0000968033033008128,
"dbsnp": "rs73251797",
"effect": "splice_region_variant,intron_variant",
"frequency_reference_population": 0.046554353,
"gene_hgnc_id": 2208,
"gene_symbol": "COL4A6",
"gnomad_exomes_ac": 50593,
"gnomad_exomes_af": 0.0460934,
"gnomad_exomes_homalt": 867,
"gnomad_genomes_ac": 5736,
"gnomad_genomes_af": 0.0510579,
"gnomad_genomes_homalt": 126,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 19287,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Hearing loss, X-linked 6|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.22,
"pos": 108159454,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.00800000037997961,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001287758.2"
}
]
}