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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: 9-19118438-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19118438&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19118438,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001122.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "NM_001122.4",
"protein_id": "NP_001113.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276914.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000276914.7",
"protein_id": "ENSP00000276914.2",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001122.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276914.7"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.822G>T",
"hgvs_p": "p.Lys274Asn",
"transcript": "ENST00000957811.1",
"protein_id": "ENSP00000627870.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 446,
"cds_start": 822,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957811.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907780.1",
"protein_id": "ENSP00000577839.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907780.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907781.1",
"protein_id": "ENSP00000577840.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907781.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907782.1",
"protein_id": "ENSP00000577841.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907782.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907783.1",
"protein_id": "ENSP00000577842.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907783.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907784.1",
"protein_id": "ENSP00000577843.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907784.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907785.1",
"protein_id": "ENSP00000577844.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907785.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907786.1",
"protein_id": "ENSP00000577845.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907786.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907787.1",
"protein_id": "ENSP00000577846.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907787.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907790.1",
"protein_id": "ENSP00000577849.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907790.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907791.1",
"protein_id": "ENSP00000577850.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907791.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000907792.1",
"protein_id": "ENSP00000577851.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907792.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000957805.1",
"protein_id": "ENSP00000627864.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957805.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000957808.1",
"protein_id": "ENSP00000627867.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957808.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000957809.1",
"protein_id": "ENSP00000627868.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957809.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000957810.1",
"protein_id": "ENSP00000627869.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957810.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000957817.1",
"protein_id": "ENSP00000627876.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957817.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.795G>T",
"hgvs_p": "p.Lys265Asn",
"transcript": "ENST00000957818.1",
"protein_id": "ENSP00000627877.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 437,
"cds_start": 795,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957818.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.789G>T",
"hgvs_p": "p.Lys263Asn",
"transcript": "ENST00000907788.1",
"protein_id": "ENSP00000577847.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 435,
"cds_start": 789,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907788.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN2",
"gene_hgnc_id": 248,
"hgvs_c": "c.789G>T",
"hgvs_p": "p.Lys263Asn",
"transcript": "ENST00000957807.1",
"protein_id": "ENSP00000627866.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 435,
"cds_start": 789,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
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"computational_score_selected": 0.1865828037261963,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001122.4",
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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
}