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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-13783390-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13783390&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13783390,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001001995.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "NM_001001995.3",
"protein_id": "NP_001001995.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 328,
"cds_start": 500,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316715.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001995.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000316715.9",
"protein_id": "ENSP00000316861.4",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 328,
"cds_start": 500,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001001995.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316715.9"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000355135.6",
"protein_id": "ENSP00000347258.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 305,
"cds_start": 500,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355135.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.380C>A",
"hgvs_p": "p.Ala127Asp",
"transcript": "ENST00000356942.9",
"protein_id": "ENSP00000349420.5",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 265,
"cds_start": 380,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356942.9"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.323C>A",
"hgvs_p": "p.Ala108Asp",
"transcript": "ENST00000454189.7",
"protein_id": "ENSP00000389915.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 246,
"cds_start": 323,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454189.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "NM_001001996.3",
"protein_id": "NP_001001996.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 305,
"cds_start": 500,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001996.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.422C>A",
"hgvs_p": "p.Ala141Asp",
"transcript": "ENST00000493677.5",
"protein_id": "ENSP00000419904.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 302,
"cds_start": 422,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493677.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.323C>A",
"hgvs_p": "p.Ala108Asp",
"transcript": "NM_001318729.2",
"protein_id": "NP_001305658.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 269,
"cds_start": 323,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318729.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.380C>A",
"hgvs_p": "p.Ala127Asp",
"transcript": "NM_005278.5",
"protein_id": "NP_005269.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 265,
"cds_start": 380,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005278.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.323C>A",
"hgvs_p": "p.Ala108Asp",
"transcript": "NM_001001994.3",
"protein_id": "NP_001001994.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 246,
"cds_start": 323,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001994.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000398361.7",
"protein_id": "ENSP00000381402.3",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 179,
"cds_start": 122,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398361.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000493085.5",
"protein_id": "ENSP00000418199.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 93,
"cds_start": 122,
"cds_end": null,
"cds_length": 284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493085.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000468080.1",
"protein_id": "ENSP00000419779.1",
"transcript_support_level": 4,
"aa_start": 41,
"aa_end": null,
"aa_length": 75,
"cds_start": 122,
"cds_end": null,
"cds_length": 229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468080.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Asp",
"transcript": "XM_011545497.3",
"protein_id": "XP_011543799.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 309,
"cds_start": 443,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545497.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.422C>A",
"hgvs_p": "p.Ala141Asp",
"transcript": "XM_047442007.1",
"protein_id": "XP_047297963.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 302,
"cds_start": 422,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442007.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.380C>A",
"hgvs_p": "p.Ala127Asp",
"transcript": "XM_005274489.6",
"protein_id": "XP_005274546.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 288,
"cds_start": 380,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274489.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Asp",
"transcript": "XM_017029432.2",
"protein_id": "XP_016884921.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 286,
"cds_start": 443,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029432.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "XM_047442009.1",
"protein_id": "XP_047297965.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 202,
"cds_start": 122,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "n.275C>A",
"hgvs_p": null,
"transcript": "ENST00000495211.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495211.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"hgvs_c": "c.*59C>A",
"hgvs_p": null,
"transcript": "ENST00000475307.1",
"protein_id": "ENSP00000418594.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475307.1"
}
],
"gene_symbol": "GPM6B",
"gene_hgnc_id": 4461,
"dbsnp": "rs1184324019",
"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": 0.8914433717727661,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.838,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.237,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001001995.3",
"gene_symbol": "GPM6B",
"hgnc_id": 4461,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}