← 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: 4-121903030-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=121903030&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 121903030,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000379645.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "NM_001130698.2",
"protein_id": "NP_001124170.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 921,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": "ENST00000379645.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "ENST00000379645.8",
"protein_id": "ENSP00000368966.3",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 921,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": "NM_001130698.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2066G>T",
"hgvs_p": "p.Arg689Leu",
"transcript": "ENST00000264811.9",
"protein_id": "ENSP00000264811.5",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 848,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2485,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.1901G>T",
"hgvs_p": "p.Arg634Leu",
"transcript": "ENST00000513531.1",
"protein_id": "ENSP00000426899.1",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 793,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 2382,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "n.*1293G>T",
"hgvs_p": null,
"transcript": "ENST00000506449.1",
"protein_id": "ENSP00000423866.1",
"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": 2700,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "n.*1293G>T",
"hgvs_p": null,
"transcript": "ENST00000506449.1",
"protein_id": "ENSP00000423866.1",
"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": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "NM_001366479.2",
"protein_id": "NP_001353408.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 893,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 8317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2066G>T",
"hgvs_p": "p.Arg689Leu",
"transcript": "NM_003305.2",
"protein_id": "NP_003296.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 848,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "XM_011532217.4",
"protein_id": "XP_011530519.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 937,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "XM_017008578.3",
"protein_id": "XP_016864067.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 936,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 8446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "XM_011532218.4",
"protein_id": "XP_011530520.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 920,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 8398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "XM_047416116.1",
"protein_id": "XP_047272072.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 838,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu",
"transcript": "XM_047416117.1",
"protein_id": "XP_047272073.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 822,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPC3",
"gene_hgnc_id": 12335,
"dbsnp": "rs142339351",
"frequency_reference_population": 0.0000013693284,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136933,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9461129903793335,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.896,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9934,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.816,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000379645.8",
"gene_symbol": "TRPC3",
"hgnc_id": 12335,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2285G>T",
"hgvs_p": "p.Arg762Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}