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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: 5-132387025-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132387025&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132387025,
"ref": "G",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "NM_001308122.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.825G>A",
"hgvs_p": "p.Trp275*",
"transcript": "NM_003060.4",
"protein_id": "NP_003051.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 557,
"cds_start": 825,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245407.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003060.4"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.825G>A",
"hgvs_p": "p.Trp275*",
"transcript": "ENST00000245407.8",
"protein_id": "ENSP00000245407.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 557,
"cds_start": 825,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003060.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245407.8"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Trp299*",
"transcript": "ENST00000435065.7",
"protein_id": "ENSP00000402760.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 581,
"cds_start": 897,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435065.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.825G>A",
"hgvs_p": null,
"transcript": "ENST00000448810.6",
"protein_id": "ENSP00000401860.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448810.6"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Trp337*",
"transcript": "ENST00000893301.1",
"protein_id": "ENSP00000563360.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 619,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893301.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Trp299*",
"transcript": "NM_001308122.2",
"protein_id": "NP_001295051.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 581,
"cds_start": 897,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308122.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.870G>A",
"hgvs_p": "p.Trp290*",
"transcript": "ENST00000893300.1",
"protein_id": "ENSP00000563359.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 572,
"cds_start": 870,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893300.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.849G>A",
"hgvs_p": "p.Trp283*",
"transcript": "ENST00000893302.1",
"protein_id": "ENSP00000563361.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 565,
"cds_start": 849,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893302.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.849G>A",
"hgvs_p": "p.Trp283*",
"transcript": "ENST00000953171.1",
"protein_id": "ENSP00000623230.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 565,
"cds_start": 849,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953171.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.822G>A",
"hgvs_p": "p.Trp274*",
"transcript": "ENST00000938827.1",
"protein_id": "ENSP00000608886.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 556,
"cds_start": 822,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938827.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Trp259*",
"transcript": "ENST00000893296.1",
"protein_id": "ENSP00000563355.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 541,
"cds_start": 777,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893296.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.825G>A",
"hgvs_p": "p.Trp275*",
"transcript": "ENST00000893297.1",
"protein_id": "ENSP00000563356.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 530,
"cds_start": 825,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893297.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.825G>A",
"hgvs_p": "p.Trp275*",
"transcript": "ENST00000938828.1",
"protein_id": "ENSP00000608887.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 496,
"cds_start": 825,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938828.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.297G>A",
"hgvs_p": "p.Trp99*",
"transcript": "XM_017009778.3",
"protein_id": "XP_016865267.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 381,
"cds_start": 297,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009778.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Trp299*",
"transcript": "XM_047417595.1",
"protein_id": "XP_047273551.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 374,
"cds_start": 897,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417595.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Trp71*",
"transcript": "XM_047417596.1",
"protein_id": "XP_047273552.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 353,
"cds_start": 213,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417596.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Trp69*",
"transcript": "XM_011543590.3",
"protein_id": "XP_011541892.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 351,
"cds_start": 207,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543590.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Val306Ile",
"transcript": "XM_047417597.1",
"protein_id": "XP_047273553.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 308,
"cds_start": 916,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417597.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Val304Ile",
"transcript": "XM_047417598.1",
"protein_id": "XP_047273554.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 306,
"cds_start": 910,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417598.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.879G>A",
"hgvs_p": "p.Arg293Arg",
"transcript": "ENST00000893299.1",
"protein_id": "ENSP00000563358.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 575,
"cds_start": 879,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893299.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "ENST00000693308.1",
"protein_id": "ENSP00000509770.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 573,
"cds_start": 873,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693308.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
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"clinvar_disease": "Renal carnitine transport defect,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "Renal carnitine transport defect|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}