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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: 21-36936735-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36936735&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36936735,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000674895.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.1151T>G",
"hgvs_p": "p.Leu384Arg",
"transcript": "NM_001352514.2",
"protein_id": "NP_001339443.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 873,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 8273,
"mane_select": "ENST00000674895.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.1151T>G",
"hgvs_p": "p.Leu384Arg",
"transcript": "ENST00000674895.3",
"protein_id": "ENSP00000502087.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 873,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 8273,
"mane_select": "NM_001352514.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "ENST00000336648.8",
"protein_id": "ENSP00000338387.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "ENST00000399120.5",
"protein_id": "ENSP00000382071.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 6466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "NM_000411.8",
"protein_id": "NP_000402.3",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 8247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "NM_001242784.3",
"protein_id": "NP_001229713.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 9228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "NM_001242785.2",
"protein_id": "NP_001229714.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "NM_001352515.2",
"protein_id": "NP_001339444.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 8101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "NM_001352516.2",
"protein_id": "NP_001339445.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 8304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "NM_001352517.1",
"protein_id": "NP_001339446.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "NM_001352518.2",
"protein_id": "NP_001339447.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 8117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "ENST00000612277.4",
"protein_id": "ENSP00000479939.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "ENST00000675307.1",
"protein_id": "ENSP00000501750.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.995T>G",
"hgvs_p": "p.Leu332Arg",
"transcript": "XM_047440752.1",
"protein_id": "XP_047296708.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 821,
"cds_start": 995,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 4483,
"cdna_end": null,
"cdna_length": 11575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.1151T>G",
"hgvs_p": "p.Leu384Arg",
"transcript": "XM_047440753.1",
"protein_id": "XP_047296709.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 751,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "XM_047440754.1",
"protein_id": "XP_047296710.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 726,
"cds_start": 710,
"cds_end": null,
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"cdna_start": 841,
"cdna_end": null,
"cdna_length": 7933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.539T>G",
"hgvs_p": "p.Leu180Arg",
"transcript": "XM_024452065.2",
"protein_id": "XP_024307833.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 669,
"cds_start": 539,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.1151T>G",
"hgvs_p": "p.Leu384Arg",
"transcript": "XM_011529540.3",
"protein_id": "XP_011527842.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 636,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.1151T>G",
"hgvs_p": "p.Leu384Arg",
"transcript": "XM_047440755.1",
"protein_id": "XP_047296711.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 550,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1182,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "c.710T>G",
"hgvs_p": "p.Leu237Arg",
"transcript": "XM_047440756.1",
"protein_id": "XP_047296712.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 489,
"cds_start": 710,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 5073,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "n.710T>G",
"hgvs_p": null,
"transcript": "ENST00000675057.1",
"protein_id": "ENSP00000501832.1",
"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": 4903,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "n.1010T>G",
"hgvs_p": null,
"transcript": "NR_148020.2",
"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": 8326,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"hgvs_c": "n.1167T>G",
"hgvs_p": null,
"transcript": "NR_148021.1",
"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": 8484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HLCS",
"gene_hgnc_id": 4976,
"dbsnp": "rs119103227",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.922444224357605,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.94,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.742,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000674895.3",
"gene_symbol": "HLCS",
"hgnc_id": 4976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1151T>G",
"hgvs_p": "p.Leu384Arg"
}
],
"clinvar_disease": "Holocarboxylase synthetase deficiency",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Holocarboxylase synthetase deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}