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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: 12-50138603-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50138603&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50138603,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_147190.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys",
"transcript": "NM_147190.5",
"protein_id": "NP_671723.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 392,
"cds_start": 507,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317551.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147190.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys",
"transcript": "ENST00000317551.12",
"protein_id": "ENSP00000325485.6",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 392,
"cds_start": 507,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_147190.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317551.12"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.449G>C",
"hgvs_p": null,
"transcript": "ENST00000380189.8",
"protein_id": "ENSP00000369536.4",
"transcript_support_level": 1,
"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": "ENST00000380189.8"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.594G>C",
"hgvs_p": "p.Trp198Cys",
"transcript": "ENST00000898651.1",
"protein_id": "ENSP00000568710.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 421,
"cds_start": 594,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898651.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.555G>C",
"hgvs_p": "p.Trp185Cys",
"transcript": "ENST00000964279.1",
"protein_id": "ENSP00000634338.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 408,
"cds_start": 555,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964279.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys",
"transcript": "NM_001331070.3",
"protein_id": "NP_001317999.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 392,
"cds_start": 507,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331070.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Trp162Cys",
"transcript": "ENST00000922931.1",
"protein_id": "ENSP00000592990.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 385,
"cds_start": 486,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922931.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys",
"transcript": "NM_001331071.3",
"protein_id": "NP_001318000.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 381,
"cds_start": 507,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331071.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.333G>C",
"hgvs_p": "p.Trp111Cys",
"transcript": "NM_001281731.2",
"protein_id": "NP_001268660.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 334,
"cds_start": 333,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281731.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.333G>C",
"hgvs_p": "p.Trp111Cys",
"transcript": "ENST00000422340.6",
"protein_id": "ENSP00000389050.2",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 334,
"cds_start": 333,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422340.6"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.333G>C",
"hgvs_p": "p.Trp111Cys",
"transcript": "NM_001331069.3",
"protein_id": "NP_001317998.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 323,
"cds_start": 333,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331069.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys",
"transcript": "ENST00000547800.2",
"protein_id": "ENSP00000448295.2",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 258,
"cds_start": 507,
"cds_end": null,
"cds_length": 779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547800.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.75G>C",
"hgvs_p": "p.Trp25Cys",
"transcript": "NM_001331072.3",
"protein_id": "NP_001318001.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 248,
"cds_start": 75,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331072.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.75G>C",
"hgvs_p": "p.Trp25Cys",
"transcript": "NM_001331073.3",
"protein_id": "NP_001318002.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 237,
"cds_start": 75,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331073.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys",
"transcript": "XM_005269220.3",
"protein_id": "XP_005269277.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 409,
"cds_start": 507,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269220.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.333G>C",
"hgvs_p": "p.Trp111Cys",
"transcript": "XM_047429865.1",
"protein_id": "XP_047285821.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 351,
"cds_start": 333,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429865.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.333G>C",
"hgvs_p": "p.Trp111Cys",
"transcript": "XM_047429866.1",
"protein_id": "XP_047285822.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 334,
"cds_start": 333,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429866.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys",
"transcript": "XM_017020204.3",
"protein_id": "XP_016875693.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 290,
"cds_start": 507,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020204.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.-70G>C",
"hgvs_p": null,
"transcript": "XM_047429867.1",
"protein_id": "XP_047285823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429867.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.493-783G>C",
"hgvs_p": null,
"transcript": "ENST00000922930.1",
"protein_id": "ENSP00000592989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922930.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.492+3450G>C",
"hgvs_p": null,
"transcript": "ENST00000922929.1",
"protein_id": "ENSP00000592988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922929.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.40-2534G>C",
"hgvs_p": null,
"transcript": "ENST00000550547.5",
"protein_id": "ENSP00000447029.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550547.5"
},
{
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],
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8654594421386719,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.5,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8244,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.826,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_147190.5",
"gene_symbol": "CERS5",
"hgnc_id": 23749,
"effects": [
"missense_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Trp169Cys"
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{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548468.2",
"gene_symbol": "ENSG00000272368",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}