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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: 4-93515346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=93515346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 93515346,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001510.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Trp",
"transcript": "NM_001510.4",
"protein_id": "NP_001501.2",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2128,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282020.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001510.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Trp",
"transcript": "ENST00000282020.9",
"protein_id": "ENSP00000282020.4",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2128,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001510.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282020.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.Arg629Trp",
"transcript": "ENST00000611049.4",
"protein_id": "ENSP00000483084.1",
"transcript_support_level": 1,
"aa_start": 629,
"aa_end": null,
"aa_length": 926,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611049.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Arg615Trp",
"transcript": "ENST00000510992.5",
"protein_id": "ENSP00000421257.1",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 912,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510992.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Trp",
"transcript": "NM_001440459.1",
"protein_id": "NP_001427388.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 919,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440459.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Arg615Trp",
"transcript": "NM_001286838.1",
"protein_id": "NP_001273767.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 912,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286838.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2212C>T",
"hgvs_p": "p.Arg738Trp",
"transcript": "XM_011531893.3",
"protein_id": "XP_011530195.2",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2212,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531893.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "XM_024454024.2",
"protein_id": "XP_024309792.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454024.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Trp",
"transcript": "XM_017008118.2",
"protein_id": "XP_016863607.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008118.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "XM_017008119.2",
"protein_id": "XP_016863608.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 963,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008119.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2212C>T",
"hgvs_p": "p.Arg738Trp",
"transcript": "XM_017008120.3",
"protein_id": "XP_016863609.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 947,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008120.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Trp",
"transcript": "XM_047450132.1",
"protein_id": "XP_047306088.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 931,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450132.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2212C>T",
"hgvs_p": "p.Arg738Trp",
"transcript": "XM_017008121.2",
"protein_id": "XP_016863610.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 903,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008121.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Trp",
"transcript": "XM_017008122.3",
"protein_id": "XP_016863611.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 875,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008122.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482Trp",
"transcript": "XM_011531894.3",
"protein_id": "XP_011530196.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 779,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531894.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Arg407Trp",
"transcript": "XM_047450134.1",
"protein_id": "XP_047306090.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 704,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450134.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Arg407Trp",
"transcript": "XM_047450135.1",
"protein_id": "XP_047306091.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 704,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450135.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Arg407Trp",
"transcript": "XM_047450136.1",
"protein_id": "XP_047306092.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 704,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450136.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391Trp",
"transcript": "XM_024454025.2",
"protein_id": "XP_024309793.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 688,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454025.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377Trp",
"transcript": "XM_047450137.1",
"protein_id": "XP_047306093.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 674,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450137.1"
}
],
"gene_symbol": "GRID2",
"gene_hgnc_id": 4576,
"dbsnp": "rs750331613",
"frequency_reference_population": 0.000014263052,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000136938,
"gnomad_genomes_af": 0.0000197309,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3760601282119751,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.263,
"revel_prediction": "Benign",
"alphamissense_score": 0.5337,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.102,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001510.4",
"gene_symbol": "GRID2",
"hgnc_id": 4576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Trp"
}
],
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 18",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive spinocerebellar ataxia 18",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}