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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: 5-136231544-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=136231544&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 136231544,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020389.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1850A>G",
"hgvs_p": "p.Glu617Gly",
"transcript": "NM_020389.3",
"protein_id": "NP_065122.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 862,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": "ENST00000513104.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1850A>G",
"hgvs_p": "p.Glu617Gly",
"transcript": "ENST00000513104.6",
"protein_id": "ENSP00000426070.2",
"transcript_support_level": 5,
"aa_start": 617,
"aa_end": null,
"aa_length": 862,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": "NM_020389.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Glu562Gly",
"transcript": "NM_001376901.1",
"protein_id": "NP_001363830.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 807,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Glu562Gly",
"transcript": "ENST00000502753.4",
"protein_id": "ENSP00000424854.3",
"transcript_support_level": 5,
"aa_start": 562,
"aa_end": null,
"aa_length": 807,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1667A>G",
"hgvs_p": "p.Glu556Gly",
"transcript": "NM_001167577.2",
"protein_id": "NP_001161049.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 801,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1667A>G",
"hgvs_p": "p.Glu556Gly",
"transcript": "ENST00000378459.7",
"protein_id": "ENSP00000367720.3",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 801,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Glu501Gly",
"transcript": "NM_001167576.2",
"protein_id": "NP_001161048.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 746,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Glu501Gly",
"transcript": "ENST00000352189.8",
"protein_id": "ENSP00000330322.5",
"transcript_support_level": 5,
"aa_start": 501,
"aa_end": null,
"aa_length": 746,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 2532,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "n.*723A>G",
"hgvs_p": null,
"transcript": "ENST00000503275.6",
"protein_id": "ENSP00000421571.2",
"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": 2888,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "n.*499A>G",
"hgvs_p": null,
"transcript": "ENST00000514963.5",
"protein_id": "ENSP00000426870.2",
"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": 2024,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "n.*723A>G",
"hgvs_p": null,
"transcript": "ENST00000503275.6",
"protein_id": "ENSP00000421571.2",
"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": 2888,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"hgvs_c": "n.*499A>G",
"hgvs_p": null,
"transcript": "ENST00000514963.5",
"protein_id": "ENSP00000426870.2",
"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": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPC7-AS2",
"gene_hgnc_id": 40937,
"hgvs_c": "n.59+4831T>C",
"hgvs_p": null,
"transcript": "NR_133682.1",
"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": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPC7",
"gene_hgnc_id": 20754,
"dbsnp": "rs1755816028",
"frequency_reference_population": 0.00000656918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7944705486297607,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.732,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020389.3",
"gene_symbol": "TRPC7",
"hgnc_id": 20754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1850A>G",
"hgvs_p": "p.Glu617Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_133682.1",
"gene_symbol": "TRPC7-AS2",
"hgnc_id": 40937,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.59+4831T>C",
"hgvs_p": null
}
],
"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
}