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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: 8-38415899-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38415899&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38415899,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000447712.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Arg609Arg",
"transcript": "NM_023110.3",
"protein_id": "NP_075598.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 822,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "ENST00000447712.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Arg609Arg",
"transcript": "ENST00000447712.7",
"protein_id": "ENSP00000400162.2",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 822,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "NM_023110.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Arg",
"transcript": "ENST00000425967.8",
"protein_id": "ENSP00000393312.4",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 828,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "ENST00000397091.9",
"protein_id": "ENSP00000380280.5",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 820,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "ENST00000397108.8",
"protein_id": "ENSP00000380297.4",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 820,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "ENST00000397113.6",
"protein_id": "ENSP00000380302.2",
"transcript_support_level": 2,
"aa_start": 607,
"aa_end": null,
"aa_length": 820,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1795C>A",
"hgvs_p": "p.Arg599Arg",
"transcript": "ENST00000335922.9",
"protein_id": "ENSP00000337247.5",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 812,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "ENST00000356207.9",
"protein_id": "ENSP00000348537.5",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 733,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "ENST00000397103.5",
"protein_id": "ENSP00000380292.1",
"transcript_support_level": 5,
"aa_start": 520,
"aa_end": null,
"aa_length": 733,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1552C>A",
"hgvs_p": "p.Arg518Arg",
"transcript": "ENST00000326324.10",
"protein_id": "ENSP00000327229.6",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 731,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.4104C>A",
"hgvs_p": null,
"transcript": "ENST00000526570.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2005C>A",
"hgvs_p": "p.Arg669Arg",
"transcript": "ENST00000683765.1",
"protein_id": "ENSP00000507039.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 892,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2714,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1918C>A",
"hgvs_p": "p.Arg640Arg",
"transcript": "NM_001174067.2",
"protein_id": "NP_001167538.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 853,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "NM_001354367.2",
"protein_id": "NP_001341296.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 830,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Arg",
"transcript": "NM_001354369.2",
"protein_id": "NP_001341298.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 828,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Arg",
"transcript": "ENST00000341462.9",
"protein_id": "ENSP00000340636.7",
"transcript_support_level": 5,
"aa_start": 605,
"aa_end": null,
"aa_length": 828,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Arg609Arg",
"transcript": "ENST00000703405.1",
"protein_id": "ENSP00000515291.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 822,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2767,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "NM_001174063.2",
"protein_id": "NP_001167534.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 820,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "NM_001174065.2",
"protein_id": "NP_001167536.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 820,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "NM_015850.4",
"protein_id": "NP_056934.2",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 820,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Arg",
"transcript": "ENST00000532791.5",
"protein_id": "ENSP00000432972.1",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 820,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Arg",
"transcript": "NM_001410922.1",
"protein_id": "NP_001397851.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 818,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Arg",
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.702,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000447712.7",
"gene_symbol": "FGFR1",
"hgnc_id": 3688,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Arg609Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}