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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: 15-89301428-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89301428&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89301428,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000310775.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "NM_001113378.2",
"protein_id": "NP_001106849.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "ENST00000310775.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "ENST00000310775.12",
"protein_id": "ENSP00000310842.8",
"transcript_support_level": 1,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "NM_001113378.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "ENST00000674831.1",
"protein_id": "ENSP00000502474.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2992,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "NM_001376911.1",
"protein_id": "NP_001363840.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "ENST00000696719.1",
"protein_id": "ENSP00000512832.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2950C>T",
"hgvs_p": "p.Pro984Ser",
"transcript": "ENST00000676003.1",
"protein_id": "ENSP00000502254.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1314,
"cds_start": 2950,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3133,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2812C>T",
"hgvs_p": "p.Pro938Ser",
"transcript": "NM_018193.3",
"protein_id": "NP_060663.2",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2812C>T",
"hgvs_p": "p.Pro938Ser",
"transcript": "ENST00000300027.12",
"protein_id": "ENSP00000300027.8",
"transcript_support_level": 5,
"aa_start": 938,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 2916,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2713C>T",
"hgvs_p": "p.Pro905Ser",
"transcript": "NM_001376910.1",
"protein_id": "NP_001363839.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2713C>T",
"hgvs_p": "p.Pro905Ser",
"transcript": "ENST00000696717.1",
"protein_id": "ENSP00000512830.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Pro819Ser",
"transcript": "ENST00000696718.1",
"protein_id": "ENSP00000512831.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2290C>T",
"hgvs_p": "p.Pro764Ser",
"transcript": "ENST00000561894.1",
"protein_id": "ENSP00000455189.1",
"transcript_support_level": 2,
"aa_start": 764,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2290,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_011521756.3",
"protein_id": "XP_011520058.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432789.1",
"protein_id": "XP_047288745.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 4344,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432790.1",
"protein_id": "XP_047288746.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432791.1",
"protein_id": "XP_047288747.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
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"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432792.1",
"protein_id": "XP_047288748.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432793.1",
"protein_id": "XP_047288749.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 4882,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432794.1",
"protein_id": "XP_047288750.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
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"cdna_start": 3161,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432795.1",
"protein_id": "XP_047288751.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432796.1",
"protein_id": "XP_047288752.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Pro998Ser",
"transcript": "XM_047432797.1",
"protein_id": "XP_047288753.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3225,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group I|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
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}