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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: 6-30154349-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30154349&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30154349,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006778.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1066G>T",
"hgvs_p": "p.Ala356Ser",
"transcript": "NM_006778.4",
"protein_id": "NP_006769.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 481,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000449742.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006778.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1066G>T",
"hgvs_p": "p.Ala356Ser",
"transcript": "ENST00000449742.7",
"protein_id": "ENSP00000397073.2",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 481,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449742.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1066G>T",
"hgvs_p": "p.Ala356Ser",
"transcript": "ENST00000376704.3",
"protein_id": "ENSP00000365894.3",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 395,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376704.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1066G>T",
"hgvs_p": "p.Ala356Ser",
"transcript": "NM_052828.3",
"protein_id": "NP_439893.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 395,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052828.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Ala374Ser",
"transcript": "XM_011514221.2",
"protein_id": "XP_011512523.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514221.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Ala374Ser",
"transcript": "XM_011514222.3",
"protein_id": "XP_011512524.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514222.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Ala374Ser",
"transcript": "XM_011514223.3",
"protein_id": "XP_011512525.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514223.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Ala374Ser",
"transcript": "XM_047418051.1",
"protein_id": "XP_047274007.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418051.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Ala374Ser",
"transcript": "XM_047418052.1",
"protein_id": "XP_047274008.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418052.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM10",
"gene_hgnc_id": 10072,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Ala374Ser",
"transcript": "XM_047418053.1",
"protein_id": "XP_047274009.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 413,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418053.1"
}
],
"gene_symbol": "TRIM10",
"gene_hgnc_id": 10072,
"dbsnp": "rs745308557",
"frequency_reference_population": 0.00006199359,
"hom_count_reference_population": 2,
"allele_count_reference_population": 100,
"gnomad_exomes_af": 0.0000636649,
"gnomad_genomes_af": 0.0000459631,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5527448058128357,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.31,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.473,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006778.4",
"gene_symbol": "TRIM10",
"hgnc_id": 10072,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1066G>T",
"hgvs_p": "p.Ala356Ser"
}
],
"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
}