← Back to variant description
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: 17-74790266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74790266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74790266,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017728.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "NM_017728.4",
"protein_id": "NP_060198.3",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 496,
"cds_start": 316,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335464.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017728.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "ENST00000335464.10",
"protein_id": "ENSP00000334849.5",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 496,
"cds_start": 316,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017728.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335464.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Trp",
"transcript": "ENST00000915164.1",
"protein_id": "ENSP00000585223.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 509,
"cds_start": 355,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915164.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "ENST00000582330.2",
"protein_id": "ENSP00000461922.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 496,
"cds_start": 316,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582330.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "ENST00000872109.1",
"protein_id": "ENSP00000542168.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 495,
"cds_start": 316,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872109.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Arg105Trp",
"transcript": "ENST00000915163.1",
"protein_id": "ENSP00000585222.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 495,
"cds_start": 313,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915163.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "ENST00000872110.1",
"protein_id": "ENSP00000542169.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 469,
"cds_start": 316,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872110.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Arg38Trp",
"transcript": "ENST00000915165.1",
"protein_id": "ENSP00000585224.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915165.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Trp",
"transcript": "ENST00000417024.6",
"protein_id": "ENSP00000397676.2",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 327,
"cds_start": 355,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417024.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "NM_001321264.3",
"protein_id": "NP_001308193.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 314,
"cds_start": 316,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321264.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "ENST00000582773.5",
"protein_id": "ENSP00000463205.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 314,
"cds_start": 316,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582773.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM104",
"gene_hgnc_id": 25984,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Arg38Trp",
"transcript": "ENST00000578764.5",
"protein_id": "ENSP00000463774.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 128,
"cds_start": 112,
"cds_end": null,
"cds_length": 389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578764.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "XM_006721963.3",
"protein_id": "XP_006722026.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 495,
"cds_start": 316,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721963.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "XM_017024798.3",
"protein_id": "XP_016880287.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 323,
"cds_start": 316,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024798.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "XM_047436329.1",
"protein_id": "XP_047292285.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 313,
"cds_start": 316,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436329.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "XM_017024799.3",
"protein_id": "XP_016880288.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 248,
"cds_start": 316,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024799.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"hgvs_c": "c.-74C>T",
"hgvs_p": null,
"transcript": "XM_017024797.2",
"protein_id": "XP_016880286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024797.2"
}
],
"gene_symbol": "SLC38A12",
"gene_hgnc_id": 25984,
"dbsnp": "rs756762487",
"frequency_reference_population": 0.000058855963,
"hom_count_reference_population": 1,
"allele_count_reference_population": 95,
"gnomad_exomes_af": 0.0000554117,
"gnomad_genomes_af": 0.0000919081,
"gnomad_exomes_ac": 81,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4282670021057129,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.288,
"revel_prediction": "Benign",
"alphamissense_score": 0.0922,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.728,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017728.4",
"gene_symbol": "SLC38A12",
"hgnc_id": 25984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000335464.10",
"gene_symbol": "TMEM104",
"hgnc_id": 25984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}