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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: 1-198253106-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=198253106&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 198253106,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_133494.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "NM_133494.3",
"protein_id": "NP_598001.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367385.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133494.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000367385.9",
"protein_id": "ENSP00000356355.4",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133494.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367385.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000538004.5",
"protein_id": "ENSP00000444621.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538004.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Cys",
"transcript": "ENST00000961625.1",
"protein_id": "ENSP00000631684.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 312,
"cds_start": 154,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961625.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876084.1",
"protein_id": "ENSP00000546143.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 310,
"cds_start": 124,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876084.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961630.1",
"protein_id": "ENSP00000631689.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 310,
"cds_start": 124,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961630.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876079.1",
"protein_id": "ENSP00000546138.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876079.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876085.1",
"protein_id": "ENSP00000546144.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876085.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876086.1",
"protein_id": "ENSP00000546145.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876086.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876087.1",
"protein_id": "ENSP00000546146.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876087.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876088.1",
"protein_id": "ENSP00000546147.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876088.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876093.1",
"protein_id": "ENSP00000546152.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876093.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876102.1",
"protein_id": "ENSP00000546161.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876102.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961628.1",
"protein_id": "ENSP00000631687.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961628.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961634.1",
"protein_id": "ENSP00000631693.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961634.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961640.1",
"protein_id": "ENSP00000631699.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961640.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961641.1",
"protein_id": "ENSP00000631700.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961641.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961642.1",
"protein_id": "ENSP00000631701.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 302,
"cds_start": 124,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961642.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Arg41Cys",
"transcript": "ENST00000876089.1",
"protein_id": "ENSP00000546148.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 301,
"cds_start": 121,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876089.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000876095.1",
"protein_id": "ENSP00000546154.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 300,
"cds_start": 124,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876095.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961624.1",
"protein_id": "ENSP00000631683.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 299,
"cds_start": 124,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961624.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "NEK7",
"gene_hgnc_id": 13386,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys",
"transcript": "ENST00000961639.1",
"protein_id": "ENSP00000631698.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 298,
"cds_start": 124,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961639.1"
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"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000411024,
"gnomad_genomes_af": 0.00000658545,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7711296081542969,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.324,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5278,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.516,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_133494.3",
"gene_symbol": "NEK7",
"hgnc_id": 13386,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Cys"
}
],
"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
}