← Back to variant description
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: 6-87509046-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87509046&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 87509046,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006416.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.757G>T",
"hgvs_p": "p.Ala253Ser",
"transcript": "NM_006416.5",
"protein_id": "NP_006407.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 337,
"cds_start": 757,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369552.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006416.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.757G>T",
"hgvs_p": "p.Ala253Ser",
"transcript": "ENST00000369552.9",
"protein_id": "ENSP00000358565.4",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 337,
"cds_start": 757,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006416.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369552.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.580G>T",
"hgvs_p": "p.Ala194Ser",
"transcript": "ENST00000369556.7",
"protein_id": "ENSP00000358569.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 278,
"cds_start": 580,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369556.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Ala268Ser",
"transcript": "ENST00000894726.1",
"protein_id": "ENSP00000564785.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 352,
"cds_start": 802,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894726.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Ala252Ser",
"transcript": "ENST00000894727.1",
"protein_id": "ENSP00000564786.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 336,
"cds_start": 754,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894727.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Ala251Ser",
"transcript": "ENST00000913810.1",
"protein_id": "ENSP00000583869.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 335,
"cds_start": 751,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913810.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.682G>T",
"hgvs_p": "p.Ala228Ser",
"transcript": "ENST00000894728.1",
"protein_id": "ENSP00000564787.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 312,
"cds_start": 682,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894728.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.580G>T",
"hgvs_p": "p.Ala194Ser",
"transcript": "NM_001168398.2",
"protein_id": "NP_001161870.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 278,
"cds_start": 580,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168398.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "ENST00000894729.1",
"protein_id": "ENSP00000564788.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 266,
"cds_start": 544,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894729.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Ala118Ser",
"transcript": "ENST00000894731.1",
"protein_id": "ENSP00000564790.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 202,
"cds_start": 352,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894731.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.513G>T",
"hgvs_p": "p.Leu171Phe",
"transcript": "ENST00000369557.9",
"protein_id": "ENSP00000358570.5",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 189,
"cds_start": 513,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369557.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.751+450G>T",
"hgvs_p": null,
"transcript": "ENST00000913811.1",
"protein_id": "ENSP00000583870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.575-2353G>T",
"hgvs_p": null,
"transcript": "ENST00000956022.1",
"protein_id": "ENSP00000626081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": null,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "c.17-2353G>T",
"hgvs_p": null,
"transcript": "ENST00000894730.1",
"protein_id": "ENSP00000564789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"hgvs_c": "n.765G>T",
"hgvs_p": null,
"transcript": "ENST00000464978.5",
"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": "pseudogene",
"feature": "ENST00000464978.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ENSG00000213204",
"gene_hgnc_id": null,
"hgvs_c": "n.1477G>T",
"hgvs_p": null,
"transcript": "ENST00000506888.5",
"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": "pseudogene",
"feature": "ENST00000506888.5"
}
],
"gene_symbol": "SLC35A1",
"gene_hgnc_id": 11021,
"dbsnp": "rs1484245900",
"frequency_reference_population": 0.0000018589894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136832,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40143394470214844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.1864,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.446,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006416.5",
"gene_symbol": "SLC35A1",
"hgnc_id": 11021,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.757G>T",
"hgvs_p": "p.Ala253Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000506888.5",
"gene_symbol": "ENSG00000213204",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1477G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}