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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: 2-127639337-A-ACAGCTTCTTCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127639337&ref=A&alt=ACAGCTTCTTCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127639337,
"ref": "A",
"alt": "ACAGCTTCTTCAG",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000355119.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.958_969dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu323_Ser324insLeuLysLysLeu",
"transcript": "NM_001161403.3",
"protein_id": "NP_001154875.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 341,
"cds_start": 969,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "ENST00000355119.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.958_969dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu323_Ser324insLeuLysLysLeu",
"transcript": "ENST00000355119.9",
"protein_id": "ENSP00000347240.4",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 341,
"cds_start": 969,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "NM_001161403.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.1030_1041dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu347_Ser348insLeuLysLysLeu",
"transcript": "ENST00000324938.9",
"protein_id": "ENSP00000326888.5",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 365,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.943_954dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu318_Ser319insLeuLysLysLeu",
"transcript": "ENST00000409455.5",
"protein_id": "ENSP00000386383.1",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 336,
"cds_start": 954,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.943_954dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu318_Ser319insLeuLysLysLeu",
"transcript": "ENST00000410011.5",
"protein_id": "ENSP00000387002.1",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 336,
"cds_start": 954,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.502_513dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu171_Ser172insLeuLysLysLeu",
"transcript": "ENST00000409754.5",
"protein_id": "ENSP00000386345.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 189,
"cds_start": 513,
"cds_end": null,
"cds_length": 570,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.1030_1041dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu347_Ser348insLeuLysLysLeu",
"transcript": "NM_017980.5",
"protein_id": "NP_060450.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 365,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.1024_1035dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu345_Ser346insLeuLysLysLeu",
"transcript": "NM_001136037.4",
"protein_id": "NP_001129509.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 363,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.1024_1035dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu345_Ser346insLeuLysLysLeu",
"transcript": "ENST00000545738.6",
"protein_id": "ENSP00000443794.2",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 363,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.943_954dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu318_Ser319insLeuLysLysLeu",
"transcript": "NM_001161404.2",
"protein_id": "NP_001154876.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 336,
"cds_start": 954,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.943_954dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu318_Ser319insLeuLysLysLeu",
"transcript": "ENST00000409808.6",
"protein_id": "ENSP00000386637.2",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 336,
"cds_start": 954,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.502_513dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu171_Ser172insLeuLysLysLeu",
"transcript": "NM_001256542.2",
"protein_id": "NP_001243471.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 189,
"cds_start": 513,
"cds_end": null,
"cds_length": 570,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.502_513dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu171_Ser172insLeuLysLysLeu",
"transcript": "ENST00000409254.1",
"protein_id": "ENSP00000386907.1",
"transcript_support_level": 3,
"aa_start": 171,
"aa_end": null,
"aa_length": 189,
"cds_start": 513,
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"cds_length": 570,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.502_513dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu171_Ser172insLeuLysLysLeu",
"transcript": "ENST00000409286.5",
"protein_id": "ENSP00000386252.1",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 189,
"cds_start": 513,
"cds_end": null,
"cds_length": 570,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.502_513dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu171_Ser172insLeuLysLysLeu",
"transcript": "ENST00000410038.5",
"protein_id": "ENSP00000386570.1",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 189,
"cds_start": 513,
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"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.439_450dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu150_Ser151insLeuLysLysLeu",
"transcript": "ENST00000426981.5",
"protein_id": "ENSP00000397253.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 168,
"cds_start": 450,
"cds_end": null,
"cds_length": 507,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.1015_1026dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu342_Ser343insLeuLysLysLeu",
"transcript": "XM_047444963.1",
"protein_id": "XP_047300919.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 360,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.943_954dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu318_Ser319insLeuLysLysLeu",
"transcript": "XM_024452983.2",
"protein_id": "XP_024308751.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 336,
"cds_start": 954,
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"cdna_start": 1277,
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"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.907_918dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu306_Ser307insLeuLysLysLeu",
"transcript": "XM_011511453.2",
"protein_id": "XP_011509755.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 324,
"cds_start": 918,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1123,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.835_846dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu282_Ser283insLeuLysLysLeu",
"transcript": "XM_047444970.1",
"protein_id": "XP_047300926.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 300,
"cds_start": 846,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.751_762dupCTGAAGAAGCTG",
"hgvs_p": "p.Leu254_Ser255insLeuLysLysLeu",
"transcript": "XM_005263710.3",
"protein_id": "XP_005263767.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 272,
"cds_start": 762,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLKKL",
"canonical": false,
"protein_coding": true,
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2W",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}