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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: 8-11757070-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11757070&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11757070,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000532059.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.1136G>T",
"hgvs_p": "p.Ser379Ile",
"transcript": "NM_001308093.3",
"protein_id": "NP_001295022.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 443,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": "ENST00000532059.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.1136G>T",
"hgvs_p": "p.Ser379Ile",
"transcript": "ENST00000532059.6",
"protein_id": "ENSP00000435712.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 443,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": "NM_001308093.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Ser378Ile",
"transcript": "NM_002052.5",
"protein_id": "NP_002043.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 442,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Ser378Ile",
"transcript": "ENST00000335135.8",
"protein_id": "ENSP00000334458.4",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 442,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Ser378Ile",
"transcript": "ENST00000622443.3",
"protein_id": "ENSP00000482268.2",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 442,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.515G>T",
"hgvs_p": "p.Ser172Ile",
"transcript": "NM_001308094.2",
"protein_id": "NP_001295023.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 236,
"cds_start": 515,
"cds_end": null,
"cds_length": 711,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.515G>T",
"hgvs_p": "p.Ser172Ile",
"transcript": "NM_001374273.1",
"protein_id": "NP_001361202.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 236,
"cds_start": 515,
"cds_end": null,
"cds_length": 711,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.515G>T",
"hgvs_p": "p.Ser172Ile",
"transcript": "ENST00000528712.5",
"protein_id": "ENSP00000435043.1",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 236,
"cds_start": 515,
"cds_end": null,
"cds_length": 711,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.389G>T",
"hgvs_p": "p.Ser130Ile",
"transcript": "NM_001374274.1",
"protein_id": "NP_001361203.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 194,
"cds_start": 389,
"cds_end": null,
"cds_length": 585,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.515G>T",
"hgvs_p": "p.Ser172Ile",
"transcript": "ENST00000526716.5",
"protein_id": "ENSP00000435347.1",
"transcript_support_level": 4,
"aa_start": 172,
"aa_end": null,
"aa_length": 174,
"cds_start": 515,
"cds_end": null,
"cds_length": 527,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "n.578G>T",
"hgvs_p": null,
"transcript": "ENST00000526021.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"dbsnp": "rs878854481",
"frequency_reference_population": 0.00004584922,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000485721,
"gnomad_genomes_af": 0.0000197055,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7790257334709167,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.669,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1531,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.831,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000532059.6",
"gene_symbol": "GATA4",
"hgnc_id": 4173,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1136G>T",
"hgvs_p": "p.Ser379Ile"
}
],
"clinvar_disease": "Atrioventricular septal defect 4,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Atrioventricular septal defect 4|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}