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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: 10-112164573-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=112164573&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 112164573,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020918.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "NM_001244949.2",
"protein_id": "NP_001231878.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348367.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244949.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000348367.9",
"protein_id": "ENSP00000265276.4",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001244949.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348367.9"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000369425.5",
"protein_id": "ENSP00000358433.1",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 710,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369425.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000964625.1",
"protein_id": "ENSP00000634684.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 835,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964625.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "NM_020918.6",
"protein_id": "NP_065969.3",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020918.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901835.1",
"protein_id": "ENSP00000571894.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901835.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901836.1",
"protein_id": "ENSP00000571895.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901836.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901837.1",
"protein_id": "ENSP00000571896.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901837.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901838.1",
"protein_id": "ENSP00000571897.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901838.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901839.1",
"protein_id": "ENSP00000571898.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901839.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901840.1",
"protein_id": "ENSP00000571899.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901840.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901841.1",
"protein_id": "ENSP00000571900.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901841.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901842.1",
"protein_id": "ENSP00000571901.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901842.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901843.1",
"protein_id": "ENSP00000571902.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901843.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "ENST00000901844.1",
"protein_id": "ENSP00000571903.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901844.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "XM_005269998.2",
"protein_id": "XP_005270055.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269998.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "XM_024448089.2",
"protein_id": "XP_024303857.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448089.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp",
"transcript": "XM_047425564.1",
"protein_id": "XP_047281520.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 828,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425564.1"
}
],
"gene_symbol": "GPAM",
"gene_hgnc_id": 24865,
"dbsnp": "rs73365184",
"frequency_reference_population": 6.873712e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87371e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19106853008270264,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1335,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.989,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020918.6",
"gene_symbol": "GPAM",
"hgnc_id": 24865,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ala420Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}