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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: 14-22775475-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22775475&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22775475,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000674313.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "NM_003982.4",
"protein_id": "NP_003973.3",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": "ENST00000674313.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000674313.1",
"protein_id": "ENSP00000501493.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": "NM_003982.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000397528.8",
"protein_id": "ENSP00000380662.4",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000397529.6",
"protein_id": "ENSP00000380663.2",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000397532.9",
"protein_id": "ENSP00000380666.4",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000555702.5",
"protein_id": "ENSP00000451881.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2272,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.735G>A",
"hgvs_p": null,
"transcript": "ENST00000554061.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1501,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.325G>A",
"hgvs_p": null,
"transcript": "ENST00000555678.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "NM_001126105.3",
"protein_id": "NP_001119577.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "NM_001126106.4",
"protein_id": "NP_001119578.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000285850.11",
"protein_id": "ENSP00000285850.7",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000555911.2",
"protein_id": "ENSP00000452551.2",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000554517.5",
"protein_id": "ENSP00000452083.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 245,
"cds_start": 266,
"cds_end": null,
"cds_length": 738,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69Gln",
"transcript": "ENST00000556350.1",
"protein_id": "ENSP00000451026.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 166,
"cds_start": 206,
"cds_end": null,
"cds_length": 503,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "XM_011537299.2",
"protein_id": "XP_011535601.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 511,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193Gln",
"transcript": "XM_047431879.1",
"protein_id": "XP_047287835.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 349,
"cds_start": 578,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1596,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*27G>A",
"hgvs_p": null,
"transcript": "ENST00000556287.5",
"protein_id": "ENSP00000450715.1",
"transcript_support_level": 5,
"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": 3017,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000698939.1",
"protein_id": "ENSP00000514047.1",
"transcript_support_level": null,
"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": 2094,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.126G>A",
"hgvs_p": null,
"transcript": "ENST00000698940.1",
"protein_id": null,
"transcript_support_level": null,
"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": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*27G>A",
"hgvs_p": null,
"transcript": "ENST00000556287.5",
"protein_id": "ENSP00000450715.1",
"transcript_support_level": 5,
"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": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000698939.1",
"protein_id": "ENSP00000514047.1",
"transcript_support_level": null,
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC7A7",
"gene_hgnc_id": 11065,
"dbsnp": "rs11568423",
"frequency_reference_population": 0.00009974611,
"hom_count_reference_population": 0,
"allele_count_reference_population": 161,
"gnomad_exomes_af": 0.0000889277,
"gnomad_genomes_af": 0.000203631,
"gnomad_exomes_ac": 130,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01457640528678894,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.757,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2332,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.881,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "PP3,BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000674313.1",
"gene_symbol": "SLC7A7",
"hgnc_id": 11065,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln"
}
],
"clinvar_disease": "Autoinflammatory syndrome,Lysinuric protein intolerance,SLC7A7-related disorder",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Lysinuric protein intolerance|Autoinflammatory syndrome|SLC7A7-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}