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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: 12-39864819-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=39864819&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 39864819,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_052885.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "NM_052885.4",
"protein_id": "NP_443117.3",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 648,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280871.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052885.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "ENST00000280871.9",
"protein_id": "ENSP00000280871.4",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 648,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052885.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280871.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "REDIC1",
"gene_hgnc_id": 26846,
"hgvs_c": "n.*999-42815C>T",
"hgvs_p": null,
"transcript": "ENST00000468200.2",
"protein_id": "ENSP00000473371.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000468200.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "ENST00000957640.1",
"protein_id": "ENSP00000627699.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 705,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957640.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "ENST00000858173.1",
"protein_id": "ENSP00000528232.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 666,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858173.1"
},
{
"aa_ref": "R",
"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": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "ENST00000858172.1",
"protein_id": "ENSP00000528231.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 606,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858172.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000858171.1",
"protein_id": "ENSP00000528230.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 525,
"cds_start": 893,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858171.1"
},
{
"aa_ref": "R",
"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": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "XM_011537847.3",
"protein_id": "XP_011536149.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 606,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537847.3"
},
{
"aa_ref": "R",
"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": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "XM_047428235.1",
"protein_id": "XP_047284191.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 555,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428235.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "XM_017018764.2",
"protein_id": "XP_016874253.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018764.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "XM_017018765.2",
"protein_id": "XP_016874254.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018765.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "XM_011537849.3",
"protein_id": "XP_011536151.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 451,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537849.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "XM_011537850.4",
"protein_id": "XP_011536152.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 445,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537850.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181His",
"transcript": "XM_017018766.2",
"protein_id": "XP_016874255.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 408,
"cds_start": 542,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018766.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "n.148G>A",
"hgvs_p": null,
"transcript": "ENST00000465517.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000465517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "REDIC1",
"gene_hgnc_id": 26846,
"hgvs_c": "n.2430-42815C>T",
"hgvs_p": null,
"transcript": "NR_135051.2",
"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_135051.2"
}
],
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"dbsnp": "rs200242923",
"frequency_reference_population": 0.0000855256,
"hom_count_reference_population": 0,
"allele_count_reference_population": 138,
"gnomad_exomes_af": 0.0000834624,
"gnomad_genomes_af": 0.000105391,
"gnomad_exomes_ac": 122,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13414806127548218,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": 0.0749,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.174,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_052885.4",
"gene_symbol": "SLC2A13",
"hgnc_id": 15956,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000468200.2",
"gene_symbol": "REDIC1",
"hgnc_id": 26846,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*999-42815C>T",
"hgvs_p": null
}
],
"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
}