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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: 7-66988405-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66988405&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66988405,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016038.4",
"consequences": [
{
"aa_ref": "K",
"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": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Lys240Arg",
"transcript": "NM_016038.4",
"protein_id": "NP_057122.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 250,
"cds_start": 719,
"cds_end": null,
"cds_length": 753,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": "ENST00000246868.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"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": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Lys240Arg",
"transcript": "ENST00000246868.7",
"protein_id": "ENSP00000246868.2",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 250,
"cds_start": 719,
"cds_end": null,
"cds_length": 753,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": "NM_016038.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Lys240Arg",
"transcript": "ENST00000697897.1",
"protein_id": "ENSP00000513469.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 250,
"cds_start": 719,
"cds_end": null,
"cds_length": 753,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Lys221Arg",
"transcript": "ENST00000697863.1",
"protein_id": "ENSP00000513462.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 231,
"cds_start": 662,
"cds_end": null,
"cds_length": 696,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Lys221Arg",
"transcript": "ENST00000697865.1",
"protein_id": "ENSP00000513463.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 231,
"cds_start": 662,
"cds_end": null,
"cds_length": 696,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "c.518A>G",
"hgvs_p": "p.Lys173Arg",
"transcript": "ENST00000697861.1",
"protein_id": "ENSP00000513460.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 183,
"cds_start": 518,
"cds_end": null,
"cds_length": 552,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "ENST00000697866.1",
"protein_id": "ENSP00000513464.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 144,
"cds_start": 401,
"cds_end": null,
"cds_length": 435,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1764,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*450A>G",
"hgvs_p": null,
"transcript": "ENST00000414306.6",
"protein_id": "ENSP00000394586.1",
"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": 1585,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.686A>G",
"hgvs_p": null,
"transcript": "ENST00000697860.1",
"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": 1392,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*160A>G",
"hgvs_p": null,
"transcript": "ENST00000697862.1",
"protein_id": "ENSP00000513461.1",
"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": 1532,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.1863A>G",
"hgvs_p": null,
"transcript": "ENST00000697864.1",
"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": 2566,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000697867.1",
"protein_id": "ENSP00000513465.1",
"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": 1309,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*483A>G",
"hgvs_p": null,
"transcript": "ENST00000697868.1",
"protein_id": "ENSP00000513466.1",
"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": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*450A>G",
"hgvs_p": null,
"transcript": "ENST00000414306.6",
"protein_id": "ENSP00000394586.1",
"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": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*160A>G",
"hgvs_p": null,
"transcript": "ENST00000697862.1",
"protein_id": "ENSP00000513461.1",
"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": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000697867.1",
"protein_id": "ENSP00000513465.1",
"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": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"hgvs_c": "n.*483A>G",
"hgvs_p": null,
"transcript": "ENST00000697868.1",
"protein_id": "ENSP00000513466.1",
"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": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SBDS",
"gene_hgnc_id": 19440,
"dbsnp": "rs377761960",
"frequency_reference_population": 0.000012393678,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000102631,
"gnomad_genomes_af": 0.0000328558,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4597059488296509,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.574,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0919,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.105,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016038.4",
"gene_symbol": "SBDS",
"hgnc_id": 19440,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Lys240Arg"
}
],
"clinvar_disease": "Aplastic anemia,Inborn genetic diseases,Shwachman-Diamond syndrome 1,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Shwachman-Diamond syndrome 1;Aplastic anemia|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}