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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: 14-87965582-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=87965582&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 87965582,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000261304.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Tyr319Cys",
"transcript": "NM_000153.4",
"protein_id": "NP_000144.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 685,
"cds_start": 956,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": "ENST00000261304.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Tyr319Cys",
"transcript": "ENST00000261304.7",
"protein_id": "ENSP00000261304.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 685,
"cds_start": 956,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": "NM_000153.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Tyr315Cys",
"transcript": "ENST00000622264.4",
"protein_id": "ENSP00000480649.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 403,
"cds_start": 944,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.946A>G",
"hgvs_p": null,
"transcript": "ENST00000474294.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Tyr296Cys",
"transcript": "NM_001201401.2",
"protein_id": "NP_001188330.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 662,
"cds_start": 887,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Tyr296Cys",
"transcript": "ENST00000393568.8",
"protein_id": "ENSP00000377198.4",
"transcript_support_level": 2,
"aa_start": 296,
"aa_end": null,
"aa_length": 662,
"cds_start": 887,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.Tyr293Cys",
"transcript": "NM_001201402.2",
"protein_id": "NP_001188331.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 659,
"cds_start": 878,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.Tyr293Cys",
"transcript": "ENST00000393569.6",
"protein_id": "ENSP00000377199.2",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 659,
"cds_start": 878,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.Tyr263Cys",
"transcript": "NM_001424071.1",
"protein_id": "NP_001411000.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 629,
"cds_start": 788,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.Tyr263Cys",
"transcript": "NM_001424072.1",
"protein_id": "NP_001411001.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 629,
"cds_start": 788,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.Tyr263Cys",
"transcript": "NM_001424073.1",
"protein_id": "NP_001411002.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 589,
"cds_start": 788,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.Tyr263Cys",
"transcript": "ENST00000544807.6",
"protein_id": "ENSP00000437513.2",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 589,
"cds_start": 788,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "NM_001424074.1",
"protein_id": "NP_001411003.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 569,
"cds_start": 608,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "NM_001424075.1",
"protein_id": "NP_001411004.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 569,
"cds_start": 608,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Tyr108Cys",
"transcript": "NM_001424076.1",
"protein_id": "NP_001411005.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 474,
"cds_start": 323,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Tyr108Cys",
"transcript": "NM_001424077.1",
"protein_id": "NP_001411006.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 474,
"cds_start": 323,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047431199.1",
"protein_id": "XP_047287155.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 569,
"cds_start": 608,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.323A>G",
"hgvs_p": null,
"transcript": "ENST00000555000.5",
"protein_id": "ENSP00000450472.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.*354A>G",
"hgvs_p": null,
"transcript": "ENST00000557316.5",
"protein_id": "ENSP00000452314.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.42A>G",
"hgvs_p": null,
"transcript": "ENST00000557520.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.974A>G",
"hgvs_p": null,
"transcript": "NR_187582.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.*354A>G",
"hgvs_p": null,
"transcript": "ENST00000557316.5",
"protein_id": "ENSP00000452314.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903355",
"gene_hgnc_id": null,
"hgvs_c": "n.-84A>G",
"hgvs_p": null,
"transcript": "XR_007064295.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"dbsnp": "rs183105855",
"frequency_reference_population": 0.0007902282,
"hom_count_reference_population": 14,
"allele_count_reference_population": 1275,
"gnomad_exomes_af": 0.000826679,
"gnomad_genomes_af": 0.000440239,
"gnomad_exomes_ac": 1208,
"gnomad_genomes_ac": 67,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024305790662765503,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.768,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.342,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.893,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 9,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000261304.7",
"gene_symbol": "GALC",
"hgnc_id": 4115,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Tyr319Cys"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007064295.1",
"gene_symbol": "LOC124903355",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-84A>G",
"hgvs_p": null
}
],
"clinvar_disease": "GALC-related disorder,Galactosylceramide beta-galactosidase deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:7 LP:3 US:6 LB:2 B:1",
"phenotype_combined": "not provided|Galactosylceramide beta-galactosidase deficiency|not specified|GALC-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}