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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: 14-22951683-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22951683&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22951683,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017815.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "NM_001166269.2",
"protein_id": "NP_001159741.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000541587.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166269.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000541587.6",
"protein_id": "ENSP00000441026.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001166269.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541587.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000206474.11",
"protein_id": "ENSP00000206474.7",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000206474.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.-36G>A",
"hgvs_p": null,
"transcript": "ENST00000490506.5",
"protein_id": "ENSP00000452260.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490506.5"
},
{
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.330+645G>A",
"hgvs_p": null,
"transcript": "ENST00000342454.12",
"protein_id": "ENSP00000342776.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342454.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259132",
"gene_hgnc_id": null,
"hgvs_c": "c.50-3670G>A",
"hgvs_p": null,
"transcript": "ENST00000555074.1",
"protein_id": "ENSP00000450856.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555074.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "NM_017815.3",
"protein_id": "NP_060285.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017815.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000891766.1",
"protein_id": "ENSP00000561825.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891766.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000891767.1",
"protein_id": "ENSP00000561826.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891767.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000891770.1",
"protein_id": "ENSP00000561829.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891770.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000891773.1",
"protein_id": "ENSP00000561832.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891773.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000958328.1",
"protein_id": "ENSP00000628387.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958328.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000958330.1",
"protein_id": "ENSP00000628389.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958330.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000958335.1",
"protein_id": "ENSP00000628394.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958335.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000958333.1",
"protein_id": "ENSP00000628392.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 353,
"cds_start": 337,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958333.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000891769.1",
"protein_id": "ENSP00000561828.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 347,
"cds_start": 337,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891769.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000958329.1",
"protein_id": "ENSP00000628388.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 347,
"cds_start": 337,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958329.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000932958.1",
"protein_id": "ENSP00000603017.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 340,
"cds_start": 337,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932958.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000891771.1",
"protein_id": "ENSP00000561830.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 282,
"cds_start": 337,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891771.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000932959.1",
"protein_id": "ENSP00000603018.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 282,
"cds_start": 337,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932959.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000932960.1",
"protein_id": "ENSP00000603019.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 282,
"cds_start": 337,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932960.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000555040.5",
"protein_id": "ENSP00000452165.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 278,
"cds_start": 337,
"cds_end": null,
"cds_length": 839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555040.5"
},
{
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{
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],
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"dbsnp": "rs748897946",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
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"gnomad_genomes_af": 0.0000131475,
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5214261412620544,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.543,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.103,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.91,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017815.3",
"gene_symbol": "HAUS4",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 2,
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"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555074.1",
"gene_symbol": "ENSG00000259132",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.50-3670G>A",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548322.2",
"gene_symbol": "PRMT5-DT",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.159-3447C>T",
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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
}