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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: 6-87477213-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87477213&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC35A1",
"hgnc_id": 11021,
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_006416.5",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000213204",
"hgnc_id": null,
"hgvs_c": "n.*61-149C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "ENST00000507897.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 28078,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006416.5",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369552.9",
"protein_coding": true,
"protein_id": "NP_006407.1",
"strand": true,
"transcript": "NM_006416.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369552.9",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006416.5",
"protein_coding": true,
"protein_id": "ENSP00000358565.4",
"strand": true,
"transcript": "ENST00000369552.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369556.7",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358569.3",
"strand": true,
"transcript": "ENST00000369556.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507897.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000213204",
"hgvs_c": "n.*61-149C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426769.1",
"strand": true,
"transcript": "ENST00000507897.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894726.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564785.1",
"strand": true,
"transcript": "ENST00000894726.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": null,
"cds_end": null,
"cds_length": 1011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894727.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564786.1",
"strand": true,
"transcript": "ENST00000894727.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913810.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583869.1",
"strand": true,
"transcript": "ENST00000913810.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": null,
"cds_end": null,
"cds_length": 939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894728.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564787.1",
"strand": true,
"transcript": "ENST00000894728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": null,
"cds_end": null,
"cds_length": 879,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913811.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583870.1",
"strand": true,
"transcript": "ENST00000913811.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001168398.2",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161870.1",
"strand": true,
"transcript": "NM_001168398.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 266,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": null,
"cds_end": null,
"cds_length": 801,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894729.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564788.1",
"strand": true,
"transcript": "ENST00000894729.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 233,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": null,
"cds_end": null,
"cds_length": 702,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000956022.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626081.1",
"strand": true,
"transcript": "ENST00000956022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 202,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1372,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894731.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.16+4194C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564790.1",
"strand": true,
"transcript": "ENST00000894731.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369557.9",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.17-149C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000358570.5",
"strand": true,
"transcript": "ENST00000369557.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
"cdna_start": null,
"cds_end": null,
"cds_length": 144,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894730.1",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "c.16+4194C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564789.1",
"strand": true,
"transcript": "ENST00000894730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000464978.5",
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"hgvs_c": "n.92-149C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000464978.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000506888.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000213204",
"hgvs_c": "n.556-149C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000506888.5",
"transcript_support_level": 2
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513191.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000213204",
"hgvs_c": "n.510-149C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513191.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs78238771",
"effect": "intron_variant",
"frequency_reference_population": 0.04334831,
"gene_hgnc_id": 11021,
"gene_symbol": "SLC35A1",
"gnomad_exomes_ac": 19769,
"gnomad_exomes_af": 0.0398238,
"gnomad_exomes_homalt": 535,
"gnomad_genomes_ac": 8309,
"gnomad_genomes_af": 0.0549108,
"gnomad_genomes_homalt": 263,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 798,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.576,
"pos": 87477213,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006416.5"
}
]
}