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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: 19-367100-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=367100&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 367100,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016585.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.His293Arg",
"transcript": "NM_016585.5",
"protein_id": "NP_057669.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 379,
"cds_start": 878,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": "ENST00000342640.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016585.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.His293Arg",
"transcript": "ENST00000342640.9",
"protein_id": "ENSP00000340088.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 379,
"cds_start": 878,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": "NM_016585.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342640.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.His269Arg",
"transcript": "NM_199202.3",
"protein_id": "NP_954672.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 355,
"cds_start": 806,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199202.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.His269Arg",
"transcript": "ENST00000346878.3",
"protein_id": "ENSP00000264820.3",
"transcript_support_level": 2,
"aa_start": 269,
"aa_end": null,
"aa_length": 355,
"cds_start": 806,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346878.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Met71Val",
"transcript": "ENST00000530711.3",
"protein_id": "ENSP00000475782.2",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 137,
"cds_start": 211,
"cds_end": null,
"cds_length": 414,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530711.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.His293Arg",
"transcript": "XM_011528049.3",
"protein_id": "XP_011526351.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 411,
"cds_start": 878,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528049.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.His269Arg",
"transcript": "XM_011528050.3",
"protein_id": "XP_011526352.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 387,
"cds_start": 806,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528050.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.674A>G",
"hgvs_p": "p.His225Arg",
"transcript": "XM_011528051.3",
"protein_id": "XP_011526353.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 343,
"cds_start": 674,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528051.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.674A>G",
"hgvs_p": "p.His225Arg",
"transcript": "XM_024451532.2",
"protein_id": "XP_024307300.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 311,
"cds_start": 674,
"cds_end": null,
"cds_length": 936,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451532.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "XM_024451533.2",
"protein_id": "XP_024307301.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 252,
"cds_start": 556,
"cds_end": null,
"cds_length": 759,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451533.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"hgvs_c": "n.*102A>G",
"hgvs_p": null,
"transcript": "ENST00000528213.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528213.1"
}
],
"gene_symbol": "SPMAP2",
"gene_hgnc_id": 13706,
"dbsnp": "rs771647103",
"frequency_reference_population": 0.000009920475,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000095848,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09491288661956787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_016585.5",
"gene_symbol": "SPMAP2",
"hgnc_id": 13706,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.878A>G",
"hgvs_p": "p.His293Arg"
}
],
"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
}