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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: 19-46724827-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46724827&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46724827,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013403.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1574T>C",
"hgvs_p": "p.Met525Thr",
"transcript": "NM_013403.3",
"protein_id": "NP_037535.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 753,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": "ENST00000263280.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1574T>C",
"hgvs_p": "p.Met525Thr",
"transcript": "ENST00000263280.11",
"protein_id": "ENSP00000263280.4",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 753,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": "NM_013403.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1595T>C",
"hgvs_p": "p.Met532Thr",
"transcript": "NM_001039877.2",
"protein_id": "NP_001034966.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 760,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1595T>C",
"hgvs_p": "p.Met532Thr",
"transcript": "ENST00000391910.7",
"protein_id": "ENSP00000375777.1",
"transcript_support_level": 5,
"aa_start": 532,
"aa_end": null,
"aa_length": 760,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Met406Thr",
"transcript": "ENST00000539396.5",
"protein_id": "ENSP00000440901.1",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 634,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.614T>C",
"hgvs_p": "p.Met205Thr",
"transcript": "ENST00000594287.6",
"protein_id": "ENSP00000470634.2",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 315,
"cds_start": 614,
"cds_end": null,
"cds_length": 949,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1640T>C",
"hgvs_p": "p.Met547Thr",
"transcript": "XM_006723171.3",
"protein_id": "XP_006723234.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 775,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1619T>C",
"hgvs_p": "p.Met540Thr",
"transcript": "XM_006723172.3",
"protein_id": "XP_006723235.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 768,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1283T>C",
"hgvs_p": "p.Met428Thr",
"transcript": "XM_047438712.1",
"protein_id": "XP_047294668.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 656,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1238T>C",
"hgvs_p": "p.Met413Thr",
"transcript": "XM_047438713.1",
"protein_id": "XP_047294669.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 641,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Met406Thr",
"transcript": "XM_047438714.1",
"protein_id": "XP_047294670.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 634,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1016T>C",
"hgvs_p": "p.Met339Thr",
"transcript": "XM_047438715.1",
"protein_id": "XP_047294671.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 567,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 2757,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "n.642T>C",
"hgvs_p": null,
"transcript": "ENST00000594357.6",
"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": 850,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "n.943T>C",
"hgvs_p": null,
"transcript": "ENST00000594581.5",
"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": 2692,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "n.842T>C",
"hgvs_p": null,
"transcript": "ENST00000595357.5",
"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": 1602,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "n.66T>C",
"hgvs_p": null,
"transcript": "ENST00000598074.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 448,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "n.843T>C",
"hgvs_p": null,
"transcript": "ENST00000601631.6",
"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": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "n.*318T>C",
"hgvs_p": null,
"transcript": "ENST00000600358.7",
"protein_id": "ENSP00000473446.2",
"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": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"dbsnp": "rs542959680",
"frequency_reference_population": 0.0000012392065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84164e-7,
"gnomad_genomes_af": 0.00000656607,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12357720732688904,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.1498,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.262,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013403.3",
"gene_symbol": "STRN4",
"hgnc_id": 15721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1574T>C",
"hgvs_p": "p.Met525Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}