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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: 7-5527863-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5527863&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5527863,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000646664.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Phe",
"transcript": "NM_001101.5",
"protein_id": "NP_001092.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 375,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": "ENST00000646664.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Phe",
"transcript": "ENST00000646664.1",
"protein_id": "ENSP00000494750.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 375,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": "NM_001101.5",
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000425660.5",
"protein_id": "ENSP00000409264.1",
"transcript_support_level": 1,
"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": 1845,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000425660.5",
"protein_id": "ENSP00000409264.1",
"transcript_support_level": 1,
"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": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Phe",
"transcript": "ENST00000493945.6",
"protein_id": "ENSP00000494269.1",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 375,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Phe",
"transcript": "ENST00000642480.2",
"protein_id": "ENSP00000495995.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 375,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Phe",
"transcript": "ENST00000674681.1",
"protein_id": "ENSP00000502821.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 375,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Phe",
"transcript": "ENST00000675515.1",
"protein_id": "ENSP00000501862.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 375,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Ser295Phe",
"transcript": "ENST00000473257.3",
"protein_id": "ENSP00000501773.1",
"transcript_support_level": 3,
"aa_start": 295,
"aa_end": null,
"aa_length": 332,
"cds_start": 884,
"cds_end": null,
"cds_length": 999,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000464611.1",
"protein_id": "ENSP00000495059.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 78,
"cds_start": 122,
"cds_end": null,
"cds_length": 237,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 715,
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.1538C>T",
"hgvs_p": null,
"transcript": "ENST00000462494.5",
"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": 2245,
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.1560C>T",
"hgvs_p": null,
"transcript": "ENST00000477812.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2271,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.*556C>T",
"hgvs_p": null,
"transcript": "ENST00000676189.1",
"protein_id": "ENSP00000502538.1",
"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": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.*120C>T",
"hgvs_p": null,
"transcript": "ENST00000432588.6",
"protein_id": "ENSP00000407473.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.*19C>T",
"hgvs_p": null,
"transcript": "ENST00000676397.1",
"protein_id": "ENSP00000502286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1804,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.*556C>T",
"hgvs_p": null,
"transcript": "ENST00000676189.1",
"protein_id": "ENSP00000502538.1",
"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": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.88-80C>T",
"hgvs_p": null,
"transcript": "ENST00000676319.1",
"protein_id": "ENSP00000502193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.*148C>T",
"hgvs_p": null,
"transcript": "ENST00000645576.1",
"protein_id": "ENSP00000496101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": -4,
"cds_end": null,
"cds_length": 929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"dbsnp": "rs1554329113",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9676111936569214,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.936,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.633,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646664.1",
"gene_symbol": "ACTB",
"hgnc_id": 132,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Phe"
}
],
"clinvar_disease": "Baraitser-Winter syndrome 1",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Baraitser-Winter syndrome 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}