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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: 14-105368112-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105368112&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105368112,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001100913.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "NM_001100913.3",
"protein_id": "NP_001094383.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 904,
"cds_start": 625,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447393.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100913.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000447393.6",
"protein_id": "ENSP00000393559.2",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 904,
"cds_start": 625,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001100913.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447393.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000325438.12",
"protein_id": "ENSP00000321834.8",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 889,
"cds_start": 625,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325438.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "ENST00000430725.6",
"protein_id": "ENSP00000393524.2",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 814,
"cds_start": 424,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430725.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000967344.1",
"protein_id": "ENSP00000637403.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 1055,
"cds_start": 625,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967344.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000967342.1",
"protein_id": "ENSP00000637401.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 945,
"cds_start": 625,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967342.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000929380.1",
"protein_id": "ENSP00000599439.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 943,
"cds_start": 625,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929380.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000858633.1",
"protein_id": "ENSP00000528692.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 939,
"cds_start": 625,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858633.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000967346.1",
"protein_id": "ENSP00000637405.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 935,
"cds_start": 625,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967346.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000929378.1",
"protein_id": "ENSP00000599437.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 932,
"cds_start": 625,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929378.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000967343.1",
"protein_id": "ENSP00000637402.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 930,
"cds_start": 625,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967343.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000929379.1",
"protein_id": "ENSP00000599438.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 917,
"cds_start": 625,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929379.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Glu237Lys",
"transcript": "ENST00000967345.1",
"protein_id": "ENSP00000637404.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 909,
"cds_start": 709,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967345.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000967339.1",
"protein_id": "ENSP00000637398.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 901,
"cds_start": 625,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967339.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000858625.1",
"protein_id": "ENSP00000528684.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 900,
"cds_start": 625,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858625.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Glu216Lys",
"transcript": "ENST00000929382.1",
"protein_id": "ENSP00000599441.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 896,
"cds_start": 646,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929382.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000858630.1",
"protein_id": "ENSP00000528689.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 894,
"cds_start": 625,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858630.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000858624.1",
"protein_id": "ENSP00000528683.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 893,
"cds_start": 625,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858624.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000967340.1",
"protein_id": "ENSP00000637399.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 892,
"cds_start": 625,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967340.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000858628.1",
"protein_id": "ENSP00000528687.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 890,
"cds_start": 625,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858628.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "NM_015197.4",
"protein_id": "NP_056012.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 889,
"cds_start": 625,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015197.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS2",
"gene_hgnc_id": 23794,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000929377.1",
"protein_id": "ENSP00000599436.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 888,
"cds_start": 625,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"gene_symbol": "PACS2",
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"dbsnp": "rs1555408401",
"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": 0.5296214818954468,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.9084,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.67,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001100913.3",
"gene_symbol": "PACS2",
"hgnc_id": 23794,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys"
}
],
"clinvar_disease": " 1, 66,Developmental and epileptic encephalopathy,Inborn genetic diseases,Intellectual disability,PACS2-related disorder,See cases,Seizure,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:29 LP:1",
"phenotype_combined": "Intellectual disability|Developmental and epileptic encephalopathy, 66|not provided|Inborn genetic diseases|PACS2-related disorder|See cases|Developmental and epileptic encephalopathy, 1|Seizure",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}