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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: 2-74422916-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74422916&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74422916,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320823.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "NM_032118.4",
"protein_id": "NP_115494.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032118.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000348227.4",
"protein_id": "ENSP00000006526.6",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032118.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348227.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "n.1173C>T",
"hgvs_p": null,
"transcript": "ENST00000465134.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000465134.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ser105Leu",
"transcript": "NM_001320823.2",
"protein_id": "NP_001307752.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 349,
"cds_start": 314,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320823.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "NM_001320824.2",
"protein_id": "NP_001307753.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"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_001320824.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000861017.1",
"protein_id": "ENSP00000531076.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"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": "ENST00000861017.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000861018.1",
"protein_id": "ENSP00000531077.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"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": "ENST00000861018.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000861019.1",
"protein_id": "ENSP00000531078.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"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": "ENST00000861019.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917846.1",
"protein_id": "ENSP00000587905.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"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": "ENST00000917846.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917848.1",
"protein_id": "ENSP00000587907.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"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": "ENST00000917848.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917852.1",
"protein_id": "ENSP00000587911.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 269,
"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": "ENST00000917852.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917855.1",
"protein_id": "ENSP00000587914.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 269,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917855.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000960089.1",
"protein_id": "ENSP00000630148.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 269,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960089.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Ser82Leu",
"transcript": "ENST00000917854.1",
"protein_id": "ENSP00000587913.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 326,
"cds_start": 245,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917854.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000861020.1",
"protein_id": "ENSP00000531079.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 316,
"cds_start": 269,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861020.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917849.1",
"protein_id": "ENSP00000587908.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 316,
"cds_start": 269,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917849.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917850.1",
"protein_id": "ENSP00000587909.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 316,
"cds_start": 269,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917850.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000960088.1",
"protein_id": "ENSP00000630147.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 290,
"cds_start": 269,
"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": "ENST00000960088.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000960090.1",
"protein_id": "ENSP00000630149.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 290,
"cds_start": 269,
"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": "ENST00000960090.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917847.1",
"protein_id": "ENSP00000587906.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 275,
"cds_start": 269,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917847.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "ENST00000917853.1",
"protein_id": "ENSP00000587912.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 251,
"cds_start": 269,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917853.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ser38Leu",
"transcript": "NM_001320825.2",
"protein_id": "NP_001307754.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 244,
"cds_start": 113,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320825.2"
},
{
"aa_ref": "S",
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{
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{
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],
"gene_symbol": "WDR54",
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"dbsnp": "rs1441509953",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000197184,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6371448040008545,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.4096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.405,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320823.2",
"gene_symbol": "WDR54",
"hgnc_id": 25770,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Ser105Leu"
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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
}