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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: 15-31062572-CACTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=31062572&ref=CACTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 31062572,
"ref": "CACTT",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000256552.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.1089+3_1089+6delAAGT",
"hgvs_p": null,
"transcript": "NM_001252024.2",
"protein_id": "NP_001238953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1625,
"cds_start": -4,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": "ENST00000256552.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.1089+3_1089+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000256552.11",
"protein_id": "ENSP00000256552.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1625,
"cds_start": -4,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": "NM_001252024.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.1140+3_1140+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000558445.6",
"protein_id": "ENSP00000452946.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1642,
"cds_start": -4,
"cds_end": null,
"cds_length": 4929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.1023+3_1023+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000397795.7",
"protein_id": "ENSP00000380897.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": -4,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.792+3_792+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000558768.5",
"protein_id": "ENSP00000453119.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1526,
"cds_start": -4,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "n.*150+3_*150+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000560801.5",
"protein_id": "ENSP00000453644.2",
"transcript_support_level": 1,
"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": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.1140+3_1140+6delAAGT",
"hgvs_p": null,
"transcript": "NM_001252020.2",
"protein_id": "NP_001238949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1642,
"cds_start": -4,
"cds_end": null,
"cds_length": 4929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.1023+3_1023+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000711434.1",
"protein_id": "ENSP00000518752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1609,
"cds_start": -4,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.1023+3_1023+6delAAGT",
"hgvs_p": null,
"transcript": "NM_002420.6",
"protein_id": "NP_002411.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": -4,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5701,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "c.544+5303_544+5306delAAGT",
"hgvs_p": null,
"transcript": "ENST00000559177.6",
"protein_id": "ENSP00000453477.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "n.173+3_173+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000558070.1",
"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": 426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"hgvs_c": "n.*150+3_*150+6delAAGT",
"hgvs_p": null,
"transcript": "ENST00000560658.5",
"protein_id": "ENSP00000454077.1",
"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": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPM1",
"gene_hgnc_id": 7146,
"dbsnp": "rs772011426",
"frequency_reference_population": 0.000007525515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752551,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.9900000095367432,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.171,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.99,
"spliceai_max_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000256552.11",
"gene_symbol": "TRPM1",
"hgnc_id": 7146,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1089+3_1089+6delAAGT",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital stationary night blindness 1C,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Congenital stationary night blindness 1C|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}