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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: 7-127613775-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=127613775&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 127613775,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001366110.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gln181Gln",
"transcript": "NM_001366110.1",
"protein_id": "NP_001353039.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 351,
"cds_start": 543,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": "ENST00000639438.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366110.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gln181Gln",
"transcript": "ENST00000639438.3",
"protein_id": "ENSP00000491782.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 351,
"cds_start": 543,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": "NM_001366110.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639438.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gln181Gln",
"transcript": "ENST00000378740.6",
"protein_id": "ENSP00000368014.4",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 348,
"cds_start": 543,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378740.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Gln173Gln",
"transcript": "ENST00000341640.6",
"protein_id": "ENSP00000339906.2",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 343,
"cds_start": 519,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341640.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "n.974A>G",
"hgvs_p": null,
"transcript": "ENST00000463946.5",
"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": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463946.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "ENST00000477423.1",
"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": 935,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "n.974A>G",
"hgvs_p": null,
"transcript": "ENST00000483494.5",
"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": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483494.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gln181Gln",
"transcript": "ENST00000868896.1",
"protein_id": "ENSP00000538955.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 351,
"cds_start": 543,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868896.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gln181Gln",
"transcript": "NM_001366111.1",
"protein_id": "NP_001353040.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 348,
"cds_start": 543,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366111.1"
}
],
"gene_symbol": "PAX4",
"gene_hgnc_id": 8618,
"dbsnp": "rs327517",
"frequency_reference_population": 0.012104765,
"hom_count_reference_population": 1216,
"allele_count_reference_population": 19536,
"gnomad_exomes_af": 0.00785168,
"gnomad_genomes_af": 0.0529929,
"gnomad_exomes_ac": 11478,
"gnomad_genomes_ac": 8058,
"gnomad_exomes_homalt": 592,
"gnomad_genomes_homalt": 624,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.76,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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_001366110.1",
"gene_symbol": "PAX4",
"hgnc_id": 8618,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gln181Gln"
}
],
"clinvar_disease": "Maturity onset diabetes mellitus in young,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Maturity onset diabetes mellitus in young|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}