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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: 7-103103467-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103103467&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 103103467,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198990.6",
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001122838.3",
"protein_id": "NP_001116310.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000465647.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122838.3"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "ENST00000465647.6",
"protein_id": "ENSP00000419188.1",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001122838.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465647.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "ENST00000341533.8",
"protein_id": "ENSP00000340093.4",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341533.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "n.369G>A",
"hgvs_p": null,
"transcript": "ENST00000414118.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000414118.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "n.1144G>A",
"hgvs_p": null,
"transcript": "ENST00000422589.5",
"protein_id": "ENSP00000412376.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422589.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386176.1",
"protein_id": "NP_001373105.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386176.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386177.1",
"protein_id": "NP_001373106.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386177.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386179.1",
"protein_id": "NP_001373108.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386179.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386182.1",
"protein_id": "NP_001373111.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386182.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386185.1",
"protein_id": "NP_001373114.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386185.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386190.1",
"protein_id": "NP_001373119.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386190.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386191.1",
"protein_id": "NP_001373120.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386191.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386193.1",
"protein_id": "NP_001373122.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386193.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386194.1",
"protein_id": "NP_001373123.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386194.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386204.1",
"protein_id": "NP_001373133.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386204.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386208.1",
"protein_id": "NP_001373137.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386208.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386209.1",
"protein_id": "NP_001373138.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386209.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386212.1",
"protein_id": "NP_001373141.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386212.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_001386213.1",
"protein_id": "NP_001373142.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386213.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "NM_198990.6",
"protein_id": "NP_945341.3",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198990.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "ENST00000417955.5",
"protein_id": "ENSP00000407112.1",
"transcript_support_level": 5,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417955.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPEPLD",
"gene_hgnc_id": 21683,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "ENST00000427257.5",
"protein_id": "ENSP00000392775.1",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 393,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.956e-7,
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3443,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.651,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_198990.6",
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"effects": [
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"inheritance_mode": "AR",
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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
}