← 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: 7-120788801-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=120788801&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 120788801,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000222747.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Ala237Pro",
"transcript": "NM_012338.4",
"protein_id": "NP_036470.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 305,
"cds_start": 709,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "ENST00000222747.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"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": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Ala237Pro",
"transcript": "ENST00000222747.8",
"protein_id": "ENSP00000222747.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 305,
"cds_start": 709,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "NM_012338.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Ala237Pro",
"transcript": "ENST00000415871.5",
"protein_id": "ENSP00000397699.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 305,
"cds_start": 709,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Ala237Pro",
"transcript": "XM_005250239.4",
"protein_id": "XP_005250296.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 305,
"cds_start": 709,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Ala237Pro",
"transcript": "XM_047420095.1",
"protein_id": "XP_047276051.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 305,
"cds_start": 709,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Ala212Pro",
"transcript": "XM_047420096.1",
"protein_id": "XP_047276052.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 280,
"cds_start": 634,
"cds_end": null,
"cds_length": 843,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "c.328G>C",
"hgvs_p": "p.Ala110Pro",
"transcript": "XM_047420097.1",
"protein_id": "XP_047276053.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 178,
"cds_start": 328,
"cds_end": null,
"cds_length": 537,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2072,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "n.*559G>C",
"hgvs_p": null,
"transcript": "ENST00000450414.5",
"protein_id": "ENSP00000397411.1",
"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": 1167,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN12",
"gene_hgnc_id": 21641,
"hgvs_c": "n.*559G>C",
"hgvs_p": null,
"transcript": "ENST00000450414.5",
"protein_id": "ENSP00000397411.1",
"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": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSPAN12",
"gene_hgnc_id": 21641,
"dbsnp": "rs267607154",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9593397378921509,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.804,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9918,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.376,
"phylop100way_prediction": "Uncertain_significance",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000222747.8",
"gene_symbol": "TSPAN12",
"hgnc_id": 21641,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Ala237Pro"
}
],
"clinvar_disease": "Exudative vitreoretinopathy 5",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Exudative vitreoretinopathy 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}