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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: 19-46722019-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46722019&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46722019,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013403.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.2059G>A",
"hgvs_p": "p.Val687Met",
"transcript": "NM_013403.3",
"protein_id": "NP_037535.2",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 753,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": "ENST00000263280.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.2059G>A",
"hgvs_p": "p.Val687Met",
"transcript": "ENST00000263280.11",
"protein_id": "ENSP00000263280.4",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 753,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": "NM_013403.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Val694Met",
"transcript": "NM_001039877.2",
"protein_id": "NP_001034966.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 760,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Val694Met",
"transcript": "ENST00000391910.7",
"protein_id": "ENSP00000375777.1",
"transcript_support_level": 5,
"aa_start": 694,
"aa_end": null,
"aa_length": 760,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Val568Met",
"transcript": "ENST00000539396.5",
"protein_id": "ENSP00000440901.1",
"transcript_support_level": 2,
"aa_start": 568,
"aa_end": null,
"aa_length": 634,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Met",
"transcript": "ENST00000600615.5",
"protein_id": "ENSP00000472938.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 197,
"cds_start": 391,
"cds_end": null,
"cds_length": 594,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Met",
"transcript": "XM_006723171.3",
"protein_id": "XP_006723234.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 775,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Met",
"transcript": "XM_006723172.3",
"protein_id": "XP_006723235.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 768,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"transcript": "XM_047438712.1",
"protein_id": "XP_047294668.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 656,
"cds_start": 1768,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Val575Met",
"transcript": "XM_047438713.1",
"protein_id": "XP_047294669.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 641,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Val568Met",
"transcript": "XM_047438714.1",
"protein_id": "XP_047294670.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 634,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Val501Met",
"transcript": "XM_047438715.1",
"protein_id": "XP_047294671.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 567,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1660,
"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.1597G>A",
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "n.1496G>A",
"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
}
],
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"dbsnp": "rs370817238",
"frequency_reference_population": 0.0000037185089,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342156,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499423384666443,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.2401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.013,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_013403.3",
"gene_symbol": "STRN4",
"hgnc_id": 15721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2059G>A",
"hgvs_p": "p.Val687Met"
}
],
"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
}