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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: 19-1110830-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1110830&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1110830,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000361757.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.2943C>T",
"hgvs_p": "p.Asn981Asn",
"transcript": "NM_014963.3",
"protein_id": "NP_055778.2",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1366,
"cds_start": 2943,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 3166,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": "ENST00000361757.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.2943C>T",
"hgvs_p": "p.Asn981Asn",
"transcript": "ENST00000361757.8",
"protein_id": "ENSP00000354733.2",
"transcript_support_level": 1,
"aa_start": 981,
"aa_end": null,
"aa_length": 1366,
"cds_start": 2943,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 3166,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": "NM_014963.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.2913C>T",
"hgvs_p": "p.Asn971Asn",
"transcript": "ENST00000587024.5",
"protein_id": "ENSP00000468520.1",
"transcript_support_level": 2,
"aa_start": 971,
"aa_end": null,
"aa_length": 1356,
"cds_start": 2913,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.2772C>T",
"hgvs_p": "p.Asn924Asn",
"transcript": "NM_001100122.2",
"protein_id": "NP_001093592.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1309,
"cds_start": 2772,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 4536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.2772C>T",
"hgvs_p": "p.Asn924Asn",
"transcript": "ENST00000438103.6",
"protein_id": "ENSP00000400762.1",
"transcript_support_level": 2,
"aa_start": 924,
"aa_end": null,
"aa_length": 1309,
"cds_start": 2772,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.2943C>T",
"hgvs_p": "p.Asn981Asn",
"transcript": "XM_011527804.4",
"protein_id": "XP_011526106.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2943,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3166,
"cdna_end": null,
"cdna_length": 4902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.1746C>T",
"hgvs_p": "p.Asn582Asn",
"transcript": "XM_047438466.1",
"protein_id": "XP_047294422.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 967,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "n.103C>T",
"hgvs_p": null,
"transcript": "ENST00000586109.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "n.234C>T",
"hgvs_p": null,
"transcript": "ENST00000587673.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"dbsnp": "rs2302109",
"frequency_reference_population": 0.5203061,
"hom_count_reference_population": 220398,
"allele_count_reference_population": 839337,
"gnomad_exomes_af": 0.515484,
"gnomad_genomes_af": 0.566738,
"gnomad_exomes_ac": 753322,
"gnomad_genomes_ac": 86015,
"gnomad_exomes_homalt": 195769,
"gnomad_genomes_homalt": 24629,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.767,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000361757.8",
"gene_symbol": "SBNO2",
"hgnc_id": 29158,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2943C>T",
"hgvs_p": "p.Asn981Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}