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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: 17-81904856-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81904856&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81904856,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000538936.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Gly383Trp",
"transcript": "NM_002861.5",
"protein_id": "NP_002852.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 389,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": "ENST00000538936.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Gly383Trp",
"transcript": "ENST00000538936.7",
"protein_id": "ENSP00000439245.3",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 389,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": "NM_002861.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1201G>T",
"hgvs_p": "p.Gly401Trp",
"transcript": "ENST00000538721.6",
"protein_id": "ENSP00000442050.2",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 407,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1201G>T",
"hgvs_p": "p.Gly401Trp",
"transcript": "NM_001184917.3",
"protein_id": "NP_001171846.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 407,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 5143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1081G>T",
"hgvs_p": "p.Gly361Trp",
"transcript": "NM_001330518.2",
"protein_id": "NP_001317447.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 367,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1081G>T",
"hgvs_p": "p.Gly361Trp",
"transcript": "ENST00000571105.5",
"protein_id": "ENSP00000459044.1",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 367,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1051G>T",
"hgvs_p": "p.Gly351Trp",
"transcript": "NM_001282204.2",
"protein_id": "NP_001269133.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 357,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1051G>T",
"hgvs_p": "p.Gly351Trp",
"transcript": "ENST00000570391.5",
"protein_id": "ENSP00000461190.1",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 357,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001256434.3",
"protein_id": "NP_001243363.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 348,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.985G>T",
"hgvs_p": "p.Gly329Trp",
"transcript": "NM_001256433.3",
"protein_id": "NP_001243362.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 335,
"cds_start": 985,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Gly305Trp",
"transcript": "NM_001256435.3",
"protein_id": "NP_001243364.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 311,
"cds_start": 913,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 5373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Gly305Trp",
"transcript": "NM_001282203.2",
"protein_id": "NP_001269132.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 311,
"cds_start": 913,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Gly305Trp",
"transcript": "ENST00000331285.7",
"protein_id": "ENSP00000331719.3",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 311,
"cds_start": 913,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Gly305Trp",
"transcript": "ENST00000570388.5",
"protein_id": "ENSP00000458330.1",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 311,
"cds_start": 913,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.598G>T",
"hgvs_p": "p.Gly200Trp",
"transcript": "ENST00000572995.5",
"protein_id": "ENSP00000460767.1",
"transcript_support_level": 3,
"aa_start": 200,
"aa_end": null,
"aa_length": 206,
"cds_start": 598,
"cds_end": null,
"cds_length": 621,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1135G>T",
"hgvs_p": "p.Gly379Trp",
"transcript": "XM_006722287.5",
"protein_id": "XP_006722350.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 385,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1105G>T",
"hgvs_p": "p.Gly369Trp",
"transcript": "XM_005256386.5",
"protein_id": "XP_005256443.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 375,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.1105G>T",
"hgvs_p": "p.Gly369Trp",
"transcript": "XM_005256387.4",
"protein_id": "XP_005256444.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 375,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "n.473G>T",
"hgvs_p": null,
"transcript": "ENST00000574343.5",
"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": 693,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.*42G>T",
"hgvs_p": null,
"transcript": "ENST00000576343.5",
"protein_id": "ENSP00000458931.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1006,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "n.*20G>T",
"hgvs_p": null,
"transcript": "ENST00000572924.2",
"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": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"dbsnp": "rs1351985403",
"frequency_reference_population": 0.0000018610237,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000137003,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10699254274368286,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.132,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000538936.7",
"gene_symbol": "PCYT2",
"hgnc_id": 8756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Gly383Trp"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}