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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: 5-39377030-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=39377030&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 39377030,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000320816.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB2",
"gene_hgnc_id": 2662,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Thr586Ile",
"transcript": "NM_001343.4",
"protein_id": "NP_001334.2",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 770,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "ENST00000320816.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB2",
"gene_hgnc_id": 2662,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Thr586Ile",
"transcript": "ENST00000320816.11",
"protein_id": "ENSP00000313391.6",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 770,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "NM_001343.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB2",
"gene_hgnc_id": 2662,
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Ile",
"transcript": "ENST00000509337.5",
"protein_id": "ENSP00000426245.1",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 749,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB2",
"gene_hgnc_id": 2662,
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Ile",
"transcript": "NM_001244871.2",
"protein_id": "NP_001231800.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 749,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB2",
"gene_hgnc_id": 2662,
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Ile",
"transcript": "ENST00000545653.5",
"protein_id": "ENSP00000439919.1",
"transcript_support_level": 5,
"aa_start": 565,
"aa_end": null,
"aa_length": 749,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAB2",
"gene_hgnc_id": 2662,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000339788.10",
"protein_id": "ENSP00000345508.6",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 552,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289699",
"gene_hgnc_id": null,
"hgvs_c": "n.119+11769C>T",
"hgvs_p": null,
"transcript": "ENST00000696106.1",
"protein_id": null,
"transcript_support_level": null,
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DAB2",
"gene_hgnc_id": 2662,
"dbsnp": "rs700241",
"frequency_reference_population": 0.01850739,
"hom_count_reference_population": 797,
"allele_count_reference_population": 29872,
"gnomad_exomes_af": 0.0158688,
"gnomad_genomes_af": 0.0438525,
"gnomad_exomes_ac": 23198,
"gnomad_genomes_ac": 6674,
"gnomad_exomes_homalt": 468,
"gnomad_genomes_homalt": 329,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017542243003845215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.1098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.709,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000320816.11",
"gene_symbol": "DAB2",
"hgnc_id": 2662,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Thr586Ile"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000696106.1",
"gene_symbol": "ENSG00000289699",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.119+11769C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}