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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: 1-244858186-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244858186&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244858186,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000640218.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.1319C>G",
"hgvs_p": "p.Ala440Gly",
"transcript": "NM_031844.3",
"protein_id": "NP_114032.2",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 825,
"cds_start": 1319,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": "ENST00000640218.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.1319C>G",
"hgvs_p": "p.Ala440Gly",
"transcript": "ENST00000640218.2",
"protein_id": "ENSP00000491215.1",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 825,
"cds_start": 1319,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": "NM_031844.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.1262C>G",
"hgvs_p": "p.Ala421Gly",
"transcript": "ENST00000444376.7",
"protein_id": "ENSP00000393151.2",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 806,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.491C>G",
"hgvs_p": "p.Ala164Gly",
"transcript": "ENST00000639628.2",
"protein_id": "ENSP00000491340.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 549,
"cds_start": 491,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 7674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.1262C>G",
"hgvs_p": "p.Ala421Gly",
"transcript": "NM_004501.3",
"protein_id": "NP_004492.2",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 806,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Ala359Gly",
"transcript": "ENST00000283179.14",
"protein_id": "ENSP00000283179.10",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 744,
"cds_start": 1076,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.1028C>G",
"hgvs_p": "p.Ala343Gly",
"transcript": "ENST00000638475.1",
"protein_id": "ENSP00000491305.1",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 728,
"cds_start": 1028,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.938C>G",
"hgvs_p": "p.Ala313Gly",
"transcript": "ENST00000704074.1",
"protein_id": "ENSP00000515674.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 664,
"cds_start": 938,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Ala217Gly",
"transcript": "ENST00000440865.2",
"protein_id": "ENSP00000410728.2",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 602,
"cds_start": 650,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.485C>G",
"hgvs_p": "p.Ala162Gly",
"transcript": "ENST00000638716.1",
"protein_id": "ENSP00000491601.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 547,
"cds_start": 485,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.491C>G",
"hgvs_p": "p.Ala164Gly",
"transcript": "ENST00000640001.1",
"protein_id": "ENSP00000491294.1",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 546,
"cds_start": 491,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ala101Gly",
"transcript": "ENST00000483966.3",
"protein_id": "ENSP00000492573.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 302,
"cds_start": 302,
"cds_end": null,
"cds_length": 909,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 1069,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.932C>G",
"hgvs_p": null,
"transcript": "ENST00000366525.8",
"protein_id": null,
"transcript_support_level": 5,
"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": 2851,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.716C>G",
"hgvs_p": null,
"transcript": "ENST00000465881.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 883,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.1379C>G",
"hgvs_p": null,
"transcript": "ENST00000468690.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 5273,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.3433C>G",
"hgvs_p": null,
"transcript": "ENST00000476241.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 4844,
"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": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.428C>G",
"hgvs_p": null,
"transcript": "ENST00000638230.1",
"protein_id": "ENSP00000492010.1",
"transcript_support_level": 5,
"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": 1922,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.491C>G",
"hgvs_p": null,
"transcript": "ENST00000638301.1",
"protein_id": "ENSP00000491807.1",
"transcript_support_level": 5,
"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": 3650,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.2087C>G",
"hgvs_p": null,
"transcript": "ENST00000638589.1",
"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": 2225,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.3536C>G",
"hgvs_p": null,
"transcript": "ENST00000638952.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 5678,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.3309C>G",
"hgvs_p": null,
"transcript": "ENST00000639667.1",
"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": 3940,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.*255C>G",
"hgvs_p": null,
"transcript": "ENST00000639880.1",
"protein_id": "ENSP00000490988.1",
"transcript_support_level": 5,
"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": 4239,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.*255C>G",
"hgvs_p": null,
"transcript": "ENST00000640056.1",
"protein_id": "ENSP00000492620.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Developmental and epileptic encephalopathy, 54",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}