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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: 8-101689356-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=101689356&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 101689356,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032041.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_032041.3",
"protein_id": "NP_114430.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220931.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032041.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "ENST00000220931.11",
"protein_id": "ENSP00000220931.6",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032041.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220931.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "ENST00000519508.6",
"protein_id": "ENSP00000430476.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519508.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "ENST00000521599.5",
"protein_id": "ENSP00000428105.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521599.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_001040624.2",
"protein_id": "NP_001035714.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040624.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_001040625.2",
"protein_id": "NP_001035715.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040625.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_001040626.2",
"protein_id": "NP_001035716.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040626.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_001040627.2",
"protein_id": "NP_001035717.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040627.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_001040628.2",
"protein_id": "NP_001035718.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040628.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_001040629.2",
"protein_id": "NP_001035719.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040629.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_001040630.2",
"protein_id": "NP_001035720.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040630.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "ENST00000311028.4",
"protein_id": "ENSP00000310587.3",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311028.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "ENST00000395923.5",
"protein_id": "ENSP00000379256.1",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395923.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422303.1",
"protein_id": "XP_047278259.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422303.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422304.1",
"protein_id": "XP_047278260.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422304.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422305.1",
"protein_id": "XP_047278261.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422305.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422306.1",
"protein_id": "XP_047278262.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422306.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422307.1",
"protein_id": "XP_047278263.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422307.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422308.1",
"protein_id": "XP_047278264.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422308.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422309.1",
"protein_id": "XP_047278265.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422309.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422311.1",
"protein_id": "XP_047278267.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422311.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCALD",
"gene_hgnc_id": 7655,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_047422312.1",
"protein_id": "XP_047278268.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 193,
"cds_start": 535,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422312.1"
},
{
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
"transcript": "NM_032041.3",
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"effects": [
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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
}