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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: 8-144084471-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144084471&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144084471,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355091.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.872T>A",
"hgvs_p": "p.Leu291Gln",
"transcript": "NM_003801.4",
"protein_id": "NP_003792.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 621,
"cds_start": 872,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "ENST00000355091.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.872T>A",
"hgvs_p": "p.Leu291Gln",
"transcript": "ENST00000355091.9",
"protein_id": "ENSP00000347206.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 621,
"cds_start": 872,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "NM_003801.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.692T>A",
"hgvs_p": "p.Leu231Gln",
"transcript": "ENST00000361036.11",
"protein_id": "ENSP00000354316.6",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 561,
"cds_start": 692,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.872T>A",
"hgvs_p": "p.Leu291Gln",
"transcript": "ENST00000703648.1",
"protein_id": "ENSP00000515415.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 626,
"cds_start": 872,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.872T>A",
"hgvs_p": "p.Leu291Gln",
"transcript": "ENST00000703649.1",
"protein_id": "ENSP00000515416.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 624,
"cds_start": 872,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.866T>A",
"hgvs_p": "p.Leu289Gln",
"transcript": "ENST00000703620.1",
"protein_id": "ENSP00000515404.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 619,
"cds_start": 866,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.830T>A",
"hgvs_p": "p.Leu277Gln",
"transcript": "ENST00000524418.6",
"protein_id": "ENSP00000434544.2",
"transcript_support_level": 3,
"aa_start": 277,
"aa_end": null,
"aa_length": 607,
"cds_start": 830,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.830T>A",
"hgvs_p": "p.Leu277Gln",
"transcript": "ENST00000703633.1",
"protein_id": "ENSP00000515410.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 607,
"cds_start": 830,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.872T>A",
"hgvs_p": "p.Leu291Gln",
"transcript": "ENST00000703621.1",
"protein_id": "ENSP00000515405.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 606,
"cds_start": 872,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.866T>A",
"hgvs_p": "p.Leu289Gln",
"transcript": "ENST00000704807.1",
"protein_id": "ENSP00000516044.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 604,
"cds_start": 866,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.830T>A",
"hgvs_p": "p.Leu277Gln",
"transcript": "ENST00000704809.1",
"protein_id": "ENSP00000516046.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 592,
"cds_start": 830,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.872T>A",
"hgvs_p": "p.Leu291Gln",
"transcript": "ENST00000703622.1",
"protein_id": "ENSP00000515406.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 580,
"cds_start": 872,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.692T>A",
"hgvs_p": "p.Leu231Gln",
"transcript": "ENST00000704806.1",
"protein_id": "ENSP00000516043.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 546,
"cds_start": 692,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.506T>A",
"hgvs_p": "p.Leu169Gln",
"transcript": "ENST00000704794.1",
"protein_id": "ENSP00000516039.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 499,
"cds_start": 506,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.470T>A",
"hgvs_p": "p.Leu157Gln",
"transcript": "ENST00000704789.1",
"protein_id": "ENSP00000516036.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 487,
"cds_start": 470,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.506T>A",
"hgvs_p": "p.Leu169Gln",
"transcript": "ENST00000703635.1",
"protein_id": "ENSP00000515412.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 431,
"cds_start": 506,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.656T>A",
"hgvs_p": "p.Leu219Gln",
"transcript": "ENST00000525087.6",
"protein_id": "ENSP00000434485.3",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 347,
"cds_start": 656,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.1267T>A",
"hgvs_p": null,
"transcript": "ENST00000525308.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*414T>A",
"hgvs_p": null,
"transcript": "ENST00000526341.6",
"protein_id": "ENSP00000515386.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.720T>A",
"hgvs_p": null,
"transcript": "ENST00000527144.6",
"protein_id": "ENSP00000515403.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.344T>A",
"hgvs_p": null,
"transcript": "ENST00000527653.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*190T>A",
"hgvs_p": null,
"transcript": "ENST00000528073.6",
"protein_id": "ENSP00000435119.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*319T>A",
"hgvs_p": null,
"transcript": "ENST00000529503.6",
"protein_id": "ENSP00000435024.1",
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}
],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3607,
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"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.502,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355091.9",
"gene_symbol": "GPAA1",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 4,
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000703646.1",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}