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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: 8-144084619-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144084619&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144084619,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000355091.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1010+10C>T",
"hgvs_p": null,
"transcript": "NM_003801.4",
"protein_id": "NP_003792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "ENST00000355091.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1010+10C>T",
"hgvs_p": null,
"transcript": "ENST00000355091.9",
"protein_id": "ENSP00000347206.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "NM_003801.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.830+10C>T",
"hgvs_p": null,
"transcript": "ENST00000361036.11",
"protein_id": "ENSP00000354316.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1919,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.1378C>T",
"hgvs_p": null,
"transcript": "ENST00000703681.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1010+10C>T",
"hgvs_p": null,
"transcript": "ENST00000703648.1",
"protein_id": "ENSP00000515415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1010+10C>T",
"hgvs_p": null,
"transcript": "ENST00000703649.1",
"protein_id": "ENSP00000515416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1004+10C>T",
"hgvs_p": null,
"transcript": "ENST00000703620.1",
"protein_id": "ENSP00000515404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": -4,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.968+10C>T",
"hgvs_p": null,
"transcript": "ENST00000524418.6",
"protein_id": "ENSP00000434544.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.968+10C>T",
"hgvs_p": null,
"transcript": "ENST00000703633.1",
"protein_id": "ENSP00000515410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1010+10C>T",
"hgvs_p": null,
"transcript": "ENST00000703621.1",
"protein_id": "ENSP00000515405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1004+10C>T",
"hgvs_p": null,
"transcript": "ENST00000704807.1",
"protein_id": "ENSP00000516044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
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"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.968+10C>T",
"hgvs_p": null,
"transcript": "ENST00000704809.1",
"protein_id": "ENSP00000516046.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 1779,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.1010+10C>T",
"hgvs_p": null,
"transcript": "ENST00000703622.1",
"protein_id": "ENSP00000515406.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 580,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.830+10C>T",
"hgvs_p": null,
"transcript": "ENST00000704806.1",
"protein_id": "ENSP00000516043.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.644+10C>T",
"hgvs_p": null,
"transcript": "ENST00000704794.1",
"protein_id": "ENSP00000516039.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.608+10C>T",
"hgvs_p": null,
"transcript": "ENST00000704789.1",
"protein_id": "ENSP00000516036.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.644+10C>T",
"hgvs_p": null,
"transcript": "ENST00000703635.1",
"protein_id": "ENSP00000515412.1",
"transcript_support_level": null,
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"aa_length": 431,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.794+10C>T",
"hgvs_p": null,
"transcript": "ENST00000525087.6",
"protein_id": "ENSP00000434485.3",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 347,
"cds_start": -4,
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"cds_length": 1044,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.1405+10C>T",
"hgvs_p": null,
"transcript": "ENST00000525308.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "GPAA1",
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"hgvs_c": "n.*552+10C>T",
"hgvs_p": null,
"transcript": "ENST00000526341.6",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*39+10C>T",
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"transcript": "ENST00000527144.6",
"protein_id": "ENSP00000515403.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.482+10C>T",
"hgvs_p": null,
"transcript": "ENST00000527653.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*328+10C>T",
"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,
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"cdna_start": null,
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"cdna_length": 2010,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"frequency_reference_population": 6.867415e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86741e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.123,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355091.9",
"gene_symbol": "GPAA1",
"hgnc_id": 4446,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1010+10C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}