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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: 14-87982205-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=87982205&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 87982205,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000261304.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.621G>T",
"hgvs_p": "p.Lys207Asn",
"transcript": "NM_000153.4",
"protein_id": "NP_000144.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 685,
"cds_start": 621,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": "ENST00000261304.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.621G>T",
"hgvs_p": "p.Lys207Asn",
"transcript": "ENST00000261304.7",
"protein_id": "ENSP00000261304.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 685,
"cds_start": 621,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": "NM_000153.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.609G>T",
"hgvs_p": "p.Lys203Asn",
"transcript": "ENST00000622264.4",
"protein_id": "ENSP00000480649.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 403,
"cds_start": 609,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 611,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.611G>T",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.-47G>T",
"hgvs_p": null,
"transcript": "NM_001424076.1",
"protein_id": "NP_001411005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.-47G>T",
"hgvs_p": null,
"transcript": "NM_001424077.1",
"protein_id": "NP_001411006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.552G>T",
"hgvs_p": "p.Lys184Asn",
"transcript": "NM_001201401.2",
"protein_id": "NP_001188330.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 662,
"cds_start": 552,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.552G>T",
"hgvs_p": "p.Lys184Asn",
"transcript": "ENST00000393568.8",
"protein_id": "ENSP00000377198.4",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 662,
"cds_start": 552,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.543G>T",
"hgvs_p": "p.Lys181Asn",
"transcript": "NM_001201402.2",
"protein_id": "NP_001188331.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 659,
"cds_start": 543,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.543G>T",
"hgvs_p": "p.Lys181Asn",
"transcript": "ENST00000393569.6",
"protein_id": "ENSP00000377199.2",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 659,
"cds_start": 543,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453G>T",
"hgvs_p": "p.Lys151Asn",
"transcript": "NM_001424071.1",
"protein_id": "NP_001411000.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 629,
"cds_start": 453,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453G>T",
"hgvs_p": "p.Lys151Asn",
"transcript": "NM_001424072.1",
"protein_id": "NP_001411001.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 629,
"cds_start": 453,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453G>T",
"hgvs_p": "p.Lys151Asn",
"transcript": "NM_001424073.1",
"protein_id": "NP_001411002.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 589,
"cds_start": 453,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453G>T",
"hgvs_p": "p.Lys151Asn",
"transcript": "ENST00000544807.6",
"protein_id": "ENSP00000437513.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 589,
"cds_start": 453,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.273G>T",
"hgvs_p": "p.Lys91Asn",
"transcript": "NM_001424074.1",
"protein_id": "NP_001411003.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 569,
"cds_start": 273,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.273G>T",
"hgvs_p": "p.Lys91Asn",
"transcript": "NM_001424075.1",
"protein_id": "NP_001411004.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 569,
"cds_start": 273,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.-47G>T",
"hgvs_p": null,
"transcript": "NM_001424076.1",
"protein_id": "NP_001411005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.-47G>T",
"hgvs_p": null,
"transcript": "NM_001424077.1",
"protein_id": "NP_001411006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.273G>T",
"hgvs_p": "p.Lys91Asn",
"transcript": "XM_047431199.1",
"protein_id": "XP_047287155.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 569,
"cds_start": 273,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 397,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.*370G>T",
"hgvs_p": null,
"transcript": "ENST00000554372.5",
"protein_id": "ENSP00000451884.1",
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.500G>T",
"hgvs_p": null,
"transcript": "ENST00000554916.5",
"protein_id": null,
"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": 631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.322G>T",
"hgvs_p": null,
"transcript": "ENST00000556261.5",
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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},
{
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],
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"dbsnp": "rs1428763453",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9390465021133423,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9980000257492065,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.851,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6954,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.282,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.96,
"spliceai_max_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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"mitotip_score": null,
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000261304.7",
"gene_symbol": "GALC",
"hgnc_id": 4115,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Lys207Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}