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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: 10-110279946-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110279946&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110279946,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000332674.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.His195His",
"transcript": "NM_130439.3",
"protein_id": "NP_569157.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 295,
"cds_start": 585,
"cds_end": null,
"cds_length": 888,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": "ENST00000332674.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.His195His",
"transcript": "ENST00000332674.9",
"protein_id": "ENSP00000331152.5",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 295,
"cds_start": 585,
"cds_end": null,
"cds_length": 888,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": "NM_130439.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.384C>T",
"hgvs_p": "p.His128His",
"transcript": "ENST00000239007.11",
"protein_id": "ENSP00000239007.7",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 228,
"cds_start": 384,
"cds_end": null,
"cds_length": 687,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000361248.8",
"protein_id": "ENSP00000354606.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 182,
"cds_start": 246,
"cds_end": null,
"cds_length": 549,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 2188,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "n.512C>T",
"hgvs_p": null,
"transcript": "ENST00000485566.2",
"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": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.384C>T",
"hgvs_p": "p.His128His",
"transcript": "NM_005962.5",
"protein_id": "NP_005953.4",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 228,
"cds_start": 384,
"cds_end": null,
"cds_length": 687,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.555C>T",
"hgvs_p": "p.His185His",
"transcript": "ENST00000453116.5",
"protein_id": "ENSP00000398981.1",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 225,
"cds_start": 555,
"cds_end": null,
"cds_length": 678,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.His118His",
"transcript": "ENST00000393134.5",
"protein_id": "ENSP00000376842.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 218,
"cds_start": 354,
"cds_end": null,
"cds_length": 657,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000369612.1",
"protein_id": "ENSP00000358625.1",
"transcript_support_level": 3,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000650644.1",
"protein_id": "ENSP00000498900.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000650696.1",
"protein_id": "ENSP00000499158.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000650810.1",
"protein_id": "ENSP00000498390.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000650843.1",
"protein_id": "ENSP00000498547.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000650952.1",
"protein_id": "ENSP00000499161.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651004.1",
"protein_id": "ENSP00000498396.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651167.1",
"protein_id": "ENSP00000498764.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651467.1",
"protein_id": "ENSP00000499128.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651495.1",
"protein_id": "ENSP00000498536.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651516.1",
"protein_id": "ENSP00000498873.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651613.1",
"protein_id": "ENSP00000498554.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
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"cdna_start": 348,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651811.1",
"protein_id": "ENSP00000498472.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
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"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651848.1",
"protein_id": "ENSP00000498238.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
"cds_end": null,
"cds_length": 579,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXI1",
"gene_hgnc_id": 7534,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.His92His",
"transcript": "ENST00000651866.1",
"protein_id": "ENSP00000498306.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 192,
"cds_start": 276,
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],
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"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.796,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000332674.9",
"gene_symbol": "MXI1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.585C>T",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}