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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: 6-32043867-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32043867&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32043867,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001428335.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.11412T>C",
"hgvs_p": "p.Asp3804Asp",
"transcript": "NM_001365276.2",
"protein_id": "NP_001352205.1",
"transcript_support_level": null,
"aa_start": 3804,
"aa_end": null,
"aa_length": 4244,
"cds_start": 11412,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644971.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365276.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.11412T>C",
"hgvs_p": "p.Asp3804Asp",
"transcript": "ENST00000644971.2",
"protein_id": "ENSP00000496448.1",
"transcript_support_level": null,
"aa_start": 3804,
"aa_end": null,
"aa_length": 4244,
"cds_start": 11412,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365276.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644971.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.699T>C",
"hgvs_p": "p.Asp233Asp",
"transcript": "ENST00000451343.4",
"protein_id": "ENSP00000407685.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 673,
"cds_start": 699,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451343.4"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "n.1239T>C",
"hgvs_p": null,
"transcript": "ENST00000490077.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490077.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.12153T>C",
"hgvs_p": "p.Asp4051Asp",
"transcript": "NM_001428335.1",
"protein_id": "NP_001415264.1",
"transcript_support_level": null,
"aa_start": 4051,
"aa_end": null,
"aa_length": 4491,
"cds_start": 12153,
"cds_end": null,
"cds_length": 13476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001428335.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.12153T>C",
"hgvs_p": "p.Asp4051Asp",
"transcript": "ENST00000647633.1",
"protein_id": "ENSP00000497649.1",
"transcript_support_level": null,
"aa_start": 4051,
"aa_end": null,
"aa_length": 4491,
"cds_start": 12153,
"cds_end": null,
"cds_length": 13476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647633.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.11412T>C",
"hgvs_p": "p.Asp3804Asp",
"transcript": "ENST00000375244.7",
"protein_id": "ENSP00000364393.3",
"transcript_support_level": 5,
"aa_start": 3804,
"aa_end": null,
"aa_length": 4244,
"cds_start": 11412,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375244.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.11406T>C",
"hgvs_p": "p.Asp3802Asp",
"transcript": "NM_019105.8",
"protein_id": "NP_061978.6",
"transcript_support_level": null,
"aa_start": 3802,
"aa_end": null,
"aa_length": 4242,
"cds_start": 11406,
"cds_end": null,
"cds_length": 12729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019105.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.699T>C",
"hgvs_p": "p.Asp233Asp",
"transcript": "NM_032470.4",
"protein_id": "NP_115859.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 673,
"cds_start": 699,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032470.4"
}
],
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"dbsnp": "rs2894232",
"frequency_reference_population": 0.1195264,
"hom_count_reference_population": 13763,
"allele_count_reference_population": 192787,
"gnomad_exomes_af": 0.116786,
"gnomad_genomes_af": 0.145913,
"gnomad_exomes_ac": 170645,
"gnomad_genomes_ac": 22142,
"gnomad_exomes_homalt": 11872,
"gnomad_genomes_homalt": 1891,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.907,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001428335.1",
"gene_symbol": "TNXB",
"hgnc_id": 11976,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.12153T>C",
"hgvs_p": "p.Asp4051Asp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}