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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: 3-51987188-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51987188&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51987188,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001316331.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "NM_000666.3",
"protein_id": "NP_000657.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000636358.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000666.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000636358.2",
"protein_id": "ENSP00000490149.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000666.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636358.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.1002A>C",
"hgvs_p": "p.Glu334Asp",
"transcript": "ENST00000463937.1",
"protein_id": "ENSP00000420487.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 509,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463937.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000404366.7",
"protein_id": "ENSP00000384296.2",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404366.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.1266A>C",
"hgvs_p": "p.Glu422Asp",
"transcript": "ENST00000637978.1",
"protein_id": "ENSP00000490744.1",
"transcript_support_level": 5,
"aa_start": 422,
"aa_end": null,
"aa_length": 584,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637978.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.969A>C",
"hgvs_p": "p.Glu323Asp",
"transcript": "NM_001316331.2",
"protein_id": "NP_001303260.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 498,
"cds_start": 969,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316331.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "NM_001198895.2",
"protein_id": "NP_001185824.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198895.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874798.1",
"protein_id": "ENSP00000544857.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874798.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874801.1",
"protein_id": "ENSP00000544860.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874801.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874809.1",
"protein_id": "ENSP00000544868.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874809.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874811.1",
"protein_id": "ENSP00000544870.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874811.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874812.1",
"protein_id": "ENSP00000544871.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874812.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000953767.1",
"protein_id": "ENSP00000623826.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953767.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874802.1",
"protein_id": "ENSP00000544861.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 407,
"cds_start": 699,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874802.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874807.1",
"protein_id": "ENSP00000544866.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 407,
"cds_start": 699,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874807.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.696A>C",
"hgvs_p": "p.Glu232Asp",
"transcript": "ENST00000874813.1",
"protein_id": "ENSP00000544872.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 407,
"cds_start": 696,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874813.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874815.1",
"protein_id": "ENSP00000544874.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 407,
"cds_start": 699,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874815.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.693A>C",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000874805.1",
"protein_id": "ENSP00000544864.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 406,
"cds_start": 693,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874805.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.684A>C",
"hgvs_p": "p.Glu228Asp",
"transcript": "ENST00000953768.1",
"protein_id": "ENSP00000623827.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 403,
"cds_start": 684,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953768.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.681A>C",
"hgvs_p": "p.Glu227Asp",
"transcript": "ENST00000874808.1",
"protein_id": "ENSP00000544867.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 402,
"cds_start": 681,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874808.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.669A>C",
"hgvs_p": "p.Glu223Asp",
"transcript": "ENST00000874814.1",
"protein_id": "ENSP00000544873.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 398,
"cds_start": 669,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874814.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Glu233Asp",
"transcript": "ENST00000874810.1",
"protein_id": "ENSP00000544869.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 397,
"cds_start": 699,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874810.1"
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"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
"score": 8,
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"criteria": [
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"verdict": "Likely_pathogenic",
"transcript": "NM_001316331.2",
"gene_symbol": "ABHD14A-ACY1",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.969A>C",
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{
"score": 8,
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"verdict": "Likely_pathogenic",
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],
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],
"clinvar_disease": "Aminoacylase 1 deficiency,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:4",
"phenotype_combined": "Aminoacylase 1 deficiency|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}