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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: 10-43114515-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43114515&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43114515,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355710.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_020975.6",
"protein_id": "NP_066124.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "ENST00000355710.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "ENST00000355710.8",
"protein_id": "ENSP00000347942.3",
"transcript_support_level": 5,
"aa_start": 639,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "NM_020975.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "ENST00000340058.6",
"protein_id": "ENSP00000344798.4",
"transcript_support_level": 1,
"aa_start": 639,
"aa_end": null,
"aa_length": 1072,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001406743.1",
"protein_id": "NP_001393672.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001406744.1",
"protein_id": "NP_001393673.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001406759.1",
"protein_id": "NP_001393688.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001406760.1",
"protein_id": "NP_001393689.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_020630.7",
"protein_id": "NP_065681.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1072,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "NM_001406761.1",
"protein_id": "NP_001393690.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1071,
"cds_start": 1786,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "NM_001406762.1",
"protein_id": "NP_001393691.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1071,
"cds_start": 1786,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "NM_001406764.1",
"protein_id": "NP_001393693.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1029,
"cds_start": 1786,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "NM_001406766.1",
"protein_id": "NP_001393695.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "NM_001406767.1",
"protein_id": "NP_001393696.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Ala507Thr",
"transcript": "NM_001406769.1",
"protein_id": "NP_001393698.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 982,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "NM_001406770.1",
"protein_id": "NP_001393699.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 976,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 6718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Ala493Thr",
"transcript": "NM_001406771.1",
"protein_id": "NP_001393700.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 968,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Ala507Thr",
"transcript": "NM_001406772.1",
"protein_id": "NP_001393701.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 940,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Ala507Thr",
"transcript": "ENST00000615310.5",
"protein_id": "ENSP00000480088.2",
"transcript_support_level": 5,
"aa_start": 507,
"aa_end": null,
"aa_length": 940,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 6513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Ala493Thr",
"transcript": "NM_001406773.1",
"protein_id": "NP_001393702.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 926,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Ala464Thr",
"transcript": "NM_001406774.1",
"protein_id": "NP_001393703.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 897,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 6481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "NM_001406775.1",
"protein_id": "NP_001393704.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 872,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "NM_001406776.1",
"protein_id": "NP_001393705.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 864,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
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}
],
"gene_symbol": "RET",
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"dbsnp": "rs777122776",
"frequency_reference_population": 0.000026733911,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000288337,
"gnomad_genomes_af": 0.00000658692,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17707505822181702,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.323,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0887,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.561,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Moderate,BP6",
"acmg_by_gene": [
{
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"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355710.8",
"gene_symbol": "RET",
"hgnc_id": 9967,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr"
}
],
"clinvar_disease": " 1, susceptibility to, type 2,Hereditary cancer-predisposing syndrome,Hirschsprung disease,Multiple endocrine neoplasia,Multiple endocrine neoplasia type 2A,Multiple endocrine neoplasia type 2B,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:2",
"phenotype_combined": "Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia type 2A|Multiple endocrine neoplasia type 2B|not provided|Hereditary cancer-predisposing syndrome|Hirschsprung disease, susceptibility to, 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}