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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: 1-17027773-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=17027773&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 17027773,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000375499.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Gln172His",
"transcript": "NM_003000.3",
"protein_id": "NP_002991.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 280,
"cds_start": 516,
"cds_end": null,
"cds_length": 843,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": "ENST00000375499.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Gln172His",
"transcript": "ENST00000375499.8",
"protein_id": "ENSP00000364649.3",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 280,
"cds_start": 516,
"cds_end": null,
"cds_length": 843,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": "NM_003000.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Gln187His",
"transcript": "ENST00000714034.1",
"protein_id": "ENSP00000519325.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 295,
"cds_start": 561,
"cds_end": null,
"cds_length": 888,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.474G>T",
"hgvs_p": "p.Gln158His",
"transcript": "ENST00000491274.6",
"protein_id": "ENSP00000480482.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 266,
"cds_start": 474,
"cds_end": null,
"cds_length": 801,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.462G>T",
"hgvs_p": "p.Gln154His",
"transcript": "NM_001407361.1",
"protein_id": "NP_001394290.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 262,
"cds_start": 462,
"cds_end": null,
"cds_length": 789,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.462G>T",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000485515.6",
"protein_id": "ENSP00000519322.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 262,
"cds_start": 462,
"cds_end": null,
"cds_length": 789,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Gln115His",
"transcript": "ENST00000463045.3",
"protein_id": "ENSP00000481376.2",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 223,
"cds_start": 345,
"cds_end": null,
"cds_length": 672,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Gln115His",
"transcript": "ENST00000714031.1",
"protein_id": "ENSP00000519321.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 223,
"cds_start": 345,
"cds_end": null,
"cds_length": 672,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Gln115His",
"transcript": "ENST00000714037.1",
"protein_id": "ENSP00000519328.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 148,
"cds_start": 345,
"cds_end": null,
"cds_length": 447,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 877,
"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": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.433G>T",
"hgvs_p": null,
"transcript": "ENST00000475506.1",
"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": 550,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.345G>T",
"hgvs_p": null,
"transcript": "ENST00000714029.1",
"protein_id": "ENSP00000519319.1",
"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": 1164,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.*467G>T",
"hgvs_p": null,
"transcript": "ENST00000714033.1",
"protein_id": "ENSP00000519324.1",
"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": 1101,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.*331G>T",
"hgvs_p": null,
"transcript": "ENST00000714035.1",
"protein_id": "ENSP00000519326.1",
"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": 1168,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.345G>T",
"hgvs_p": null,
"transcript": "ENST00000714036.1",
"protein_id": "ENSP00000519327.1",
"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": 1129,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.*163G>T",
"hgvs_p": null,
"transcript": "ENST00000714038.1",
"protein_id": "ENSP00000519329.1",
"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": 842,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.*467G>T",
"hgvs_p": null,
"transcript": "ENST00000714033.1",
"protein_id": "ENSP00000519324.1",
"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": 1101,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.*331G>T",
"hgvs_p": null,
"transcript": "ENST00000714035.1",
"protein_id": "ENSP00000519326.1",
"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": 1168,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.*163G>T",
"hgvs_p": null,
"transcript": "ENST00000714038.1",
"protein_id": "ENSP00000519329.1",
"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": 842,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "c.369+881G>T",
"hgvs_p": null,
"transcript": "ENST00000714032.1",
"protein_id": "ENSP00000519323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": -4,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"hgvs_c": "n.496+20G>T",
"hgvs_p": null,
"transcript": "ENST00000714030.1",
"protein_id": "ENSP00000519320.1",
"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": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SDHB",
"gene_hgnc_id": 10681,
"dbsnp": "rs138937650",
"frequency_reference_population": 6.8819145e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88191e-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": 0.8384020924568176,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.891,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375499.8",
"gene_symbol": "SDHB",
"hgnc_id": 10681,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Gln172His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}