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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: 3-48565090-G-GGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48565090&ref=G&alt=GGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48565090,
"ref": "G",
"alt": "GGGA",
"effect": "intron_variant",
"transcript": "ENST00000681320.1",
"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": 119,
"intron_rank": 117,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "c.8620+18_8620+19insTCC",
"hgvs_p": null,
"transcript": "NM_000094.4",
"protein_id": "NP_000085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2944,
"cds_start": -4,
"cds_end": null,
"cds_length": 8835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9231,
"mane_select": "ENST00000681320.1",
"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": 119,
"intron_rank": 117,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "c.8620+18_8620+19insTCC",
"hgvs_p": null,
"transcript": "ENST00000681320.1",
"protein_id": "ENSP00000506558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2944,
"cds_start": -4,
"cds_end": null,
"cds_length": 8835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9231,
"mane_select": "NM_000094.4",
"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": 118,
"intron_rank": 116,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "c.8620+18_8620+19insTCC",
"hgvs_p": null,
"transcript": "ENST00000328333.12",
"protein_id": "ENSP00000332371.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2944,
"cds_start": -4,
"cds_end": null,
"cds_length": 8835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9276,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "n.231+18_231+19insTCC",
"hgvs_p": null,
"transcript": "ENST00000466591.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 778,
"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": 83,
"intron_rank": 81,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "n.5259+18_5259+19insTCC",
"hgvs_p": null,
"transcript": "ENST00000487017.5",
"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": 5807,
"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": 118,
"intron_rank": 116,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "c.8560+18_8560+19insTCC",
"hgvs_p": null,
"transcript": "XM_017005688.2",
"protein_id": "XP_016861177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2924,
"cds_start": -4,
"cds_end": null,
"cds_length": 8775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9171,
"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": 118,
"intron_rank": 117,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "n.8756+18_8756+19insTCC",
"hgvs_p": null,
"transcript": "XR_001740003.2",
"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": 8849,
"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": 118,
"intron_rank": 117,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "n.8720+18_8720+19insTCC",
"hgvs_p": null,
"transcript": "XR_001740004.2",
"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": 8813,
"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": 118,
"intron_rank": 117,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "n.8717+18_8717+19insTCC",
"hgvs_p": null,
"transcript": "XR_001740005.2",
"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": 8810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "n.-72_-71insTCC",
"hgvs_p": null,
"transcript": "ENST00000465238.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"hgvs_c": "n.-99_-98insTCC",
"hgvs_p": null,
"transcript": "ENST00000470076.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL7A1",
"gene_hgnc_id": 2214,
"dbsnp": "rs138595277",
"frequency_reference_population": 0.00012478491,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000123175,
"gnomad_genomes_af": 0.000124785,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.006,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000681320.1",
"gene_symbol": "COL7A1",
"hgnc_id": 2214,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.8620+18_8620+19insTCC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}