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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: 17-4988533-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4988533&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4988533,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001167986.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "NM_001394789.1",
"protein_id": "NP_001381718.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695324.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394789.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000695324.1",
"protein_id": "ENSP00000511805.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394789.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695324.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000574617.1",
"protein_id": "ENSP00000458316.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574617.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000576820.5",
"protein_id": "ENSP00000460673.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576820.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "ENST00000355025.7",
"protein_id": "ENSP00000347129.3",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355025.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "ENST00000575780.5",
"protein_id": "ENSP00000461844.1",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575780.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "NM_001167986.2",
"protein_id": "NP_001161458.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167986.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "NM_001167987.2",
"protein_id": "NP_001161459.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167987.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "NM_001394788.1",
"protein_id": "NP_001381717.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394788.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000895019.1",
"protein_id": "ENSP00000565078.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895019.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000895021.1",
"protein_id": "ENSP00000565080.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895021.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000895023.1",
"protein_id": "ENSP00000565082.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895023.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000895024.1",
"protein_id": "ENSP00000565083.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895024.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000949043.1",
"protein_id": "ENSP00000619102.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949043.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000949045.1",
"protein_id": "ENSP00000619104.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949045.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "ENST00000949046.1",
"protein_id": "ENSP00000619105.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 583,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949046.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "NM_001167985.2",
"protein_id": "NP_001161457.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167985.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "NM_001394790.1",
"protein_id": "NP_001381719.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394790.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "NM_001394791.1",
"protein_id": "NP_001381720.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394791.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "NM_213726.3",
"protein_id": "NP_998891.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213726.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "ENST00000895020.1",
"protein_id": "ENSP00000565079.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895020.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Pro180Ser",
"transcript": "ENST00000895022.1",
"protein_id": "ENSP00000565081.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895022.1"
},
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],
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001167986.2",
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{
"score": 0,
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"pathogenic_score": 0,
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"transcript": "ENST00000574260.3",
"gene_symbol": "CAMTA2-AS1",
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"inheritance_mode": "",
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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
}