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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: 2-69345968-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=69345968&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 69345968,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001244710.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1041A>T",
"hgvs_p": "p.Ile347Ile",
"transcript": "NM_001244710.2",
"protein_id": "NP_001231639.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 699,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357308.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244710.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1041A>T",
"hgvs_p": "p.Ile347Ile",
"transcript": "ENST00000357308.9",
"protein_id": "ENSP00000349860.4",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 699,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001244710.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357308.9"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.987A>T",
"hgvs_p": "p.Ile329Ile",
"transcript": "ENST00000361060.5",
"protein_id": "ENSP00000354347.4",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 681,
"cds_start": 987,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361060.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1089A>T",
"hgvs_p": "p.Ile363Ile",
"transcript": "ENST00000955842.1",
"protein_id": "ENSP00000625901.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 715,
"cds_start": 1089,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955842.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Ile357Ile",
"transcript": "ENST00000955849.1",
"protein_id": "ENSP00000625908.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 709,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955849.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1035A>T",
"hgvs_p": "p.Ile345Ile",
"transcript": "ENST00000852904.1",
"protein_id": "ENSP00000522963.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 697,
"cds_start": 1035,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852904.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.987A>T",
"hgvs_p": "p.Ile329Ile",
"transcript": "NM_002056.4",
"protein_id": "NP_002047.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 681,
"cds_start": 987,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002056.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.984A>T",
"hgvs_p": "p.Ile328Ile",
"transcript": "ENST00000852902.1",
"protein_id": "ENSP00000522961.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 680,
"cds_start": 984,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852902.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.933A>T",
"hgvs_p": "p.Ile311Ile",
"transcript": "ENST00000852899.1",
"protein_id": "ENSP00000522958.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 663,
"cds_start": 933,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852899.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.933A>T",
"hgvs_p": "p.Ile311Ile",
"transcript": "ENST00000955848.1",
"protein_id": "ENSP00000625907.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 663,
"cds_start": 933,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955848.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.915A>T",
"hgvs_p": "p.Ile305Ile",
"transcript": "ENST00000955843.1",
"protein_id": "ENSP00000625902.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 657,
"cds_start": 915,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955843.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.879A>T",
"hgvs_p": "p.Ile293Ile",
"transcript": "ENST00000852901.1",
"protein_id": "ENSP00000522960.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 645,
"cds_start": 879,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852901.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.879A>T",
"hgvs_p": "p.Ile293Ile",
"transcript": "ENST00000852903.1",
"protein_id": "ENSP00000522962.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 645,
"cds_start": 879,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852903.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1041A>T",
"hgvs_p": "p.Ile347Ile",
"transcript": "ENST00000955845.1",
"protein_id": "ENSP00000625904.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 643,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955845.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.861A>T",
"hgvs_p": "p.Ile287Ile",
"transcript": "ENST00000852900.1",
"protein_id": "ENSP00000522959.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 639,
"cds_start": 861,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852900.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.825A>T",
"hgvs_p": "p.Ile275Ile",
"transcript": "ENST00000955846.1",
"protein_id": "ENSP00000625905.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 627,
"cds_start": 825,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955846.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.987A>T",
"hgvs_p": "p.Ile329Ile",
"transcript": "ENST00000674507.1",
"protein_id": "ENSP00000501332.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 625,
"cds_start": 987,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674507.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1041A>T",
"hgvs_p": "p.Ile347Ile",
"transcript": "ENST00000955850.1",
"protein_id": "ENSP00000625909.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 618,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955850.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.771A>T",
"hgvs_p": "p.Ile257Ile",
"transcript": "ENST00000674438.1",
"protein_id": "ENSP00000501469.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 609,
"cds_start": 771,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674438.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Ile239Ile",
"transcript": "ENST00000852906.1",
"protein_id": "ENSP00000522965.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 591,
"cds_start": 717,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852906.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.987A>T",
"hgvs_p": "p.Ile329Ile",
"transcript": "ENST00000852905.1",
"protein_id": "ENSP00000522964.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 590,
"cds_start": 987,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852905.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.987A>T",
"hgvs_p": "p.Ile329Ile",
"transcript": "ENST00000912110.1",
"protein_id": "ENSP00000582169.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 588,
"cds_start": 987,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
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{
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{
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{
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{
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],
"gene_symbol": "GFPT1",
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"dbsnp": "rs772941507",
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"hom_count_reference_population": 0,
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"computational_score_selected": -0.3799999952316284,
"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": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.834,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001244710.2",
"gene_symbol": "GFPT1",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile347Ile"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 12",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Congenital myasthenic syndrome 12",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}