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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: 9-135693779-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135693779&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135693779,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001101677.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.982T>C",
"hgvs_p": "p.Trp328Arg",
"transcript": "NM_001101677.2",
"protein_id": "NP_001095147.2",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 387,
"cds_start": 982,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000425225.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101677.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.982T>C",
"hgvs_p": "p.Trp328Arg",
"transcript": "ENST00000425225.2",
"protein_id": "ENSP00000404438.1",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 387,
"cds_start": 982,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001101677.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425225.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.*567T>C",
"hgvs_p": null,
"transcript": "ENST00000298466.9",
"protein_id": "ENSP00000298466.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298466.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.982T>C",
"hgvs_p": "p.Trp328Arg",
"transcript": "ENST00000950496.1",
"protein_id": "ENSP00000620555.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 387,
"cds_start": 982,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950496.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Trp136Arg",
"transcript": "ENST00000673731.1",
"protein_id": "ENSP00000501311.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 195,
"cds_start": 406,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673731.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Trp350Arg",
"transcript": "XM_005263403.4",
"protein_id": "XP_005263460.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 409,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263403.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Trp350Arg",
"transcript": "XM_011518698.4",
"protein_id": "XP_011517000.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 409,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518698.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.844T>C",
"hgvs_p": "p.Trp282Arg",
"transcript": "XM_006717109.5",
"protein_id": "XP_006717172.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 341,
"cds_start": 844,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717109.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "c.*567T>C",
"hgvs_p": null,
"transcript": "NM_001012415.3",
"protein_id": "NP_001012415.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012415.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"hgvs_c": "n.2572T>C",
"hgvs_p": null,
"transcript": "ENST00000674066.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000674066.1"
}
],
"gene_symbol": "SOHLH1",
"gene_hgnc_id": 27845,
"dbsnp": "rs757370119",
"frequency_reference_population": 0.00001770975,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000125976,
"gnomad_genomes_af": 0.0000656987,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.021460682153701782,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.2606,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.115,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001101677.2",
"gene_symbol": "SOHLH1",
"hgnc_id": 27845,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.982T>C",
"hgvs_p": "p.Trp328Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}