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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: 1-9039877-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9039877&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 9039877,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003039.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "NM_003039.3",
"protein_id": "NP_003030.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377424.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003039.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "ENST00000377424.9",
"protein_id": "ENSP00000366641.4",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003039.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377424.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "NM_001328619.2",
"protein_id": "NP_001315548.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328619.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "ENST00000941832.1",
"protein_id": "ENSP00000611891.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941832.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "ENST00000941833.1",
"protein_id": "ENSP00000611892.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941833.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "ENST00000941834.1",
"protein_id": "ENSP00000611893.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 467,
"cds_start": 808,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941834.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "NM_001328620.2",
"protein_id": "NP_001315549.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 457,
"cds_start": 676,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328620.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Arg123Gly",
"transcript": "NM_001328621.2",
"protein_id": "NP_001315550.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 354,
"cds_start": 367,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328621.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428588.1",
"protein_id": "XP_047284544.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428588.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428591.1",
"protein_id": "XP_047284547.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428591.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428594.1",
"protein_id": "XP_047284550.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428594.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428598.1",
"protein_id": "XP_047284554.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428598.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428602.1",
"protein_id": "XP_047284558.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428602.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428606.1",
"protein_id": "XP_047284562.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428606.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428612.1",
"protein_id": "XP_047284568.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428612.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428614.1",
"protein_id": "XP_047284570.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428614.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "XM_047428615.1",
"protein_id": "XP_047284571.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428615.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "XM_047428623.1",
"protein_id": "XP_047284579.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 456,
"cds_start": 673,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428623.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.463C>G",
"hgvs_p": "p.Arg155Gly",
"transcript": "XM_047428625.1",
"protein_id": "XP_047284581.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 386,
"cds_start": 463,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428625.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "n.19C>G",
"hgvs_p": null,
"transcript": "ENST00000487492.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000487492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.*1744C>G",
"hgvs_p": null,
"transcript": "ENST00000377414.7",
"protein_id": "ENSP00000366631.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377414.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SLC2A5",
"gene_hgnc_id": 11010,
"hgvs_c": "c.*1744C>G",
"hgvs_p": null,
"transcript": "NM_001135585.2",
"protein_id": "NP_001129057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135585.2"
}
],
"gene_symbol": "SLC2A5",
"gene_hgnc_id": 11010,
"dbsnp": "rs779760381",
"frequency_reference_population": 0.0000075332973,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000075333,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09695351123809814,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.1287,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.519,
"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": 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_003039.3",
"gene_symbol": "SLC2A5",
"hgnc_id": 11010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Arg270Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}