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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: 12-6843041-CAAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6843041&ref=CAAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6843041,
"ref": "CAAG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000229264.8",
"consequences": [
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "NM_002075.4",
"protein_id": "NP_002066.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 340,
"cds_start": 170,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": "ENST00000229264.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "ENST00000229264.8",
"protein_id": "ENSP00000229264.3",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 340,
"cds_start": 170,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": "NM_002075.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "ENST00000435982.6",
"protein_id": "ENSP00000414734.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 339,
"cds_start": 170,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "NM_001297571.2",
"protein_id": "NP_001284500.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 339,
"cds_start": 170,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "ENST00000537035.1",
"protein_id": "ENSP00000445967.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 263,
"cds_start": 170,
"cds_end": null,
"cds_length": 794,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "ENST00000541978.5",
"protein_id": "ENSP00000439753.2",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 231,
"cds_start": 170,
"cds_end": null,
"cds_length": 698,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "ENST00000541257.5",
"protein_id": "ENSP00000442002.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 231,
"cds_start": 170,
"cds_end": null,
"cds_length": 696,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "XM_011520953.4",
"protein_id": "XP_011519255.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 360,
"cds_start": 170,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "XM_047428702.1",
"protein_id": "XP_047284658.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 360,
"cds_start": 170,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del",
"transcript": "XM_047428703.1",
"protein_id": "XP_047284659.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 340,
"cds_start": 170,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "n.*190_*192delAGA",
"hgvs_p": null,
"transcript": "ENST00000539127.5",
"protein_id": "ENSP00000444325.1",
"transcript_support_level": 3,
"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": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "n.1521_1523delAGA",
"hgvs_p": null,
"transcript": "ENST00000540458.5",
"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": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "n.*190_*192delAGA",
"hgvs_p": null,
"transcript": "ENST00000539127.5",
"protein_id": "ENSP00000444325.1",
"transcript_support_level": 3,
"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": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "n.*41_*43delAAG",
"hgvs_p": null,
"transcript": "ENST00000542868.1",
"protein_id": null,
"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": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"hgvs_c": "c.*64_*66delAAG",
"hgvs_p": null,
"transcript": "ENST00000675241.1",
"protein_id": "ENSP00000501677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": -4,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNB3",
"gene_hgnc_id": 4400,
"dbsnp": "rs879253774",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"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": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000229264.8",
"gene_symbol": "GNB3",
"hgnc_id": 4400,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.170_172delAGA",
"hgvs_p": "p.Lys57del"
}
],
"clinvar_disease": "Congenital stationary night blindness 1H",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Congenital stationary night blindness 1H",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}