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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: 5-132385436-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132385436&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PP3",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC22A5",
"hgnc_id": 10969,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001308122.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS3,PP3,PP5",
"acmg_score": 6,
"allele_count_reference_population": 335,
"alphamissense_prediction": null,
"alphamissense_score": 0.2395,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Renal carnitine transport defect,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:7 US:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8028385043144226,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1674,
"cds_start": 761,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003060.4",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245407.8",
"protein_coding": true,
"protein_id": "NP_003051.1",
"strand": true,
"transcript": "NM_003060.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1674,
"cds_start": 761,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000245407.8",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003060.4",
"protein_coding": true,
"protein_id": "ENSP00000245407.3",
"strand": true,
"transcript": "ENST00000245407.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 581,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1746,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000435065.7",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402760.2",
"strand": true,
"transcript": "ENST00000435065.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000448810.6",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "n.761G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401860.2",
"strand": true,
"transcript": "ENST00000448810.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 1860,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893301.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563360.1",
"strand": true,
"transcript": "ENST00000893301.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 581,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1746,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308122.2",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295051.1",
"strand": true,
"transcript": "NM_001308122.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1719,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893300.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Arg269Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563359.1",
"strand": true,
"transcript": "ENST00000893300.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1698,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893302.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563361.1",
"strand": true,
"transcript": "ENST00000893302.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1698,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953171.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623230.1",
"strand": true,
"transcript": "ENST00000953171.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1671,
"cds_start": 761,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938827.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608886.1",
"strand": true,
"transcript": "ENST00000938827.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1626,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893296.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563355.1",
"strand": true,
"transcript": "ENST00000893296.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1593,
"cds_start": 761,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893297.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563356.1",
"strand": true,
"transcript": "ENST00000893297.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1491,
"cds_start": 761,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938828.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608887.1",
"strand": true,
"transcript": "ENST00000938828.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1146,
"cds_start": 233,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017009778.3",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865267.1",
"strand": true,
"transcript": "XM_017009778.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 374,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1125,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047417595.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273551.1",
"strand": true,
"transcript": "XM_047417595.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8198,
"cdna_start": 5945,
"cds_end": null,
"cds_length": 1062,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047417596.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Arg50Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273552.1",
"strand": true,
"transcript": "XM_047417596.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 242,
"cds_end": null,
"cds_length": 1056,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011543590.3",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541892.1",
"strand": true,
"transcript": "XM_011543590.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1728,
"cds_start": 780,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893299.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Pro260Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563358.1",
"strand": true,
"transcript": "ENST00000893299.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1722,
"cds_start": 774,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000693308.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.774G>A",
"hgvs_p": "p.Pro258Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509770.1",
"strand": true,
"transcript": "ENST00000693308.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 551,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1656,
"cds_start": 780,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000692413.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Pro260Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509374.1",
"strand": true,
"transcript": "ENST00000692413.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1566,
"cds_start": 780,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
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