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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: 17-49702909-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49702909&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 49702909,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005827.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Ala289Ser",
"transcript": "NM_005827.4",
"protein_id": "NP_005818.3",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 322,
"cds_start": 865,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240333.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005827.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Ala289Ser",
"transcript": "ENST00000240333.12",
"protein_id": "ENSP00000240333.8",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 322,
"cds_start": 865,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005827.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240333.12"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Ala326Ser",
"transcript": "ENST00000649906.1",
"protein_id": "ENSP00000497423.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 359,
"cds_start": 976,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649906.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Ala289Ser",
"transcript": "ENST00000858530.1",
"protein_id": "ENSP00000528589.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 336,
"cds_start": 865,
"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": "ENST00000858530.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Ala287Ser",
"transcript": "ENST00000858533.1",
"protein_id": "ENSP00000528592.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 320,
"cds_start": 859,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858533.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.838G>T",
"hgvs_p": "p.Ala280Ser",
"transcript": "ENST00000940145.1",
"protein_id": "ENSP00000610204.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 313,
"cds_start": 838,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940145.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.823G>T",
"hgvs_p": "p.Ala275Ser",
"transcript": "ENST00000858532.1",
"protein_id": "ENSP00000528591.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 308,
"cds_start": 823,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858532.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Ala266Ser",
"transcript": "ENST00000858531.1",
"protein_id": "ENSP00000528590.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 299,
"cds_start": 796,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858531.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.703G>T",
"hgvs_p": "p.Ala235Ser",
"transcript": "ENST00000953815.1",
"protein_id": "ENSP00000623874.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 268,
"cds_start": 703,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953815.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "NM_001278784.2",
"protein_id": "NP_001265713.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 255,
"cds_start": 664,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278784.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "ENST00000503334.5",
"protein_id": "ENSP00000423323.1",
"transcript_support_level": 3,
"aa_start": 222,
"aa_end": null,
"aa_length": 226,
"cds_start": 664,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503334.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.1078G>T",
"hgvs_p": "p.Ala360Ser",
"transcript": "XM_006721632.4",
"protein_id": "XP_006721695.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 393,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721632.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.847G>T",
"hgvs_p": "p.Ala283Ser",
"transcript": "XM_011524179.3",
"protein_id": "XP_011522481.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 316,
"cds_start": 847,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524179.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "XM_011524180.3",
"protein_id": "XP_011522482.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 255,
"cds_start": 664,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524180.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.59-1399G>T",
"hgvs_p": null,
"transcript": "ENST00000940146.1",
"protein_id": "ENSP00000610205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": null,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.1236G>T",
"hgvs_p": null,
"transcript": "ENST00000502406.5",
"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": "retained_intron",
"feature": "ENST00000502406.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.2056G>T",
"hgvs_p": null,
"transcript": "ENST00000504260.5",
"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": "retained_intron",
"feature": "ENST00000504260.5"
},
{
"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": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.906G>T",
"hgvs_p": null,
"transcript": "ENST00000507477.1",
"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": "ENST00000507477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.*477G>T",
"hgvs_p": null,
"transcript": "ENST00000507773.6",
"protein_id": "ENSP00000425179.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000507773.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.230G>T",
"hgvs_p": null,
"transcript": "ENST00000508749.1",
"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": "ENST00000508749.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.*477G>T",
"hgvs_p": null,
"transcript": "ENST00000507773.6",
"protein_id": "ENSP00000425179.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000507773.6"
}
],
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"dbsnp": "rs746827566",
"frequency_reference_population": 6.8405444e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2668911814689636,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.0656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.848,
"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": 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_005827.4",
"gene_symbol": "SLC35B1",
"hgnc_id": 20798,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Ala289Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}