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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: 4-143514070-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=143514070&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 143514070,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003601.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "NM_003601.4",
"protein_id": "NP_003592.3",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1052,
"cds_start": 146,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283131.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003601.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000283131.4",
"protein_id": "ENSP00000283131.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 1052,
"cds_start": 146,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003601.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283131.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5-AS1",
"gene_hgnc_id": 39982,
"hgvs_c": "n.347G>A",
"hgvs_p": null,
"transcript": "ENST00000500800.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000500800.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000940952.1",
"protein_id": "ENSP00000611011.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1066,
"cds_start": 146,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940952.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000940953.1",
"protein_id": "ENSP00000611012.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1060,
"cds_start": 146,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940953.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000913618.1",
"protein_id": "ENSP00000583677.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1052,
"cds_start": 146,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913618.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000940951.1",
"protein_id": "ENSP00000611010.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1049,
"cds_start": 146,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940951.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000913621.1",
"protein_id": "ENSP00000583680.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1012,
"cds_start": 146,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913621.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000885350.1",
"protein_id": "ENSP00000555409.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1011,
"cds_start": 146,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885350.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000940954.1",
"protein_id": "ENSP00000611013.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1008,
"cds_start": 146,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940954.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000913619.1",
"protein_id": "ENSP00000583678.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 992,
"cds_start": 146,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913619.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000940955.1",
"protein_id": "ENSP00000611014.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 977,
"cds_start": 146,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940955.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000913620.1",
"protein_id": "ENSP00000583679.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 956,
"cds_start": 146,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913620.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "ENST00000940956.1",
"protein_id": "ENSP00000611015.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 896,
"cds_start": 146,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940956.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"transcript": "XM_047416323.1",
"protein_id": "XP_047272279.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 597,
"cds_start": 146,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA5-AS1",
"gene_hgnc_id": 39982,
"hgvs_c": "n.549G>A",
"hgvs_p": null,
"transcript": "NR_104027.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104027.1"
}
],
"gene_symbol": "SMARCA5",
"gene_hgnc_id": 11101,
"dbsnp": "rs748958303",
"frequency_reference_population": 0.0000076931165,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000781426,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010855168104171753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.0952,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.033,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003601.4",
"gene_symbol": "SMARCA5",
"hgnc_id": 11101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000500800.3",
"gene_symbol": "SMARCA5-AS1",
"hgnc_id": 39982,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.347G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}