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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: 10-73192573-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73192573&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73192573,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_173348.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala",
"transcript": "NM_173348.2",
"protein_id": "NP_775483.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 582,
"cds_start": 300,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": "ENST00000242505.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala",
"transcript": "ENST00000242505.11",
"protein_id": "ENSP00000242505.6",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 582,
"cds_start": 300,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": "NM_173348.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.120C>T",
"hgvs_p": "p.Ala40Ala",
"transcript": "ENST00000372955.7",
"protein_id": "ENSP00000362046.3",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 468,
"cds_start": 120,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala",
"transcript": "XM_005269744.3",
"protein_id": "XP_005269801.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 528,
"cds_start": 300,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Ala78Ala",
"transcript": "XM_047425142.1",
"protein_id": "XP_047281098.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 506,
"cds_start": 234,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala",
"transcript": "XM_047425143.1",
"protein_id": "XP_047281099.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 451,
"cds_start": 300,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala",
"transcript": "XM_017016167.2",
"protein_id": "XP_016871656.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 368,
"cds_start": 300,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala",
"transcript": "XM_011539740.3",
"protein_id": "XP_011538042.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 345,
"cds_start": 300,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 5660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala",
"transcript": "XM_047425144.1",
"protein_id": "XP_047281100.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 321,
"cds_start": 300,
"cds_end": null,
"cds_length": 966,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Ala78Ala",
"transcript": "XM_047425145.1",
"protein_id": "XP_047281101.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 299,
"cds_start": 234,
"cds_end": null,
"cds_length": 900,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1344,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJC9",
"gene_hgnc_id": 19123,
"hgvs_c": "n.148-8997G>A",
"hgvs_p": null,
"transcript": "ENST00000469143.1",
"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": 362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "Y_RNA",
"gene_hgnc_id": null,
"hgvs_c": "n.-248G>A",
"hgvs_p": null,
"transcript": "ENST00000362331.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"dbsnp": "rs1589150358",
"frequency_reference_population": 7.1506923e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.15069e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008999999612569809,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.824,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_173348.2",
"gene_symbol": "FAM149B1",
"hgnc_id": 29162,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ala100Ala"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000469143.1",
"gene_symbol": "DNAJC9",
"hgnc_id": 19123,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.148-8997G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000362331.1",
"gene_symbol": "Y_RNA",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-248G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}