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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: 6-83171943-TTTAAG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83171943&ref=TTTAAG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83171943,
"ref": "TTTAAG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000513973.6",
"consequences": [
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "NM_015599.3",
"protein_id": "NP_056414.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 542,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": "ENST00000513973.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "ENST00000513973.6",
"protein_id": "ENSP00000424874.1",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 542,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": "NM_015599.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "ENST00000512866.5",
"protein_id": "ENSP00000421565.1",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 566,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1111_1115delCTTAA",
"hgvs_p": "p.Leu371fs",
"transcript": "ENST00000283977.9",
"protein_id": "ENSP00000283977.5",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 441,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1438_1442delCTTAA",
"hgvs_p": "p.Leu480fs",
"transcript": "NM_001199917.2",
"protein_id": "NP_001186846.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 570,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1438_1442delCTTAA",
"hgvs_p": "p.Leu480fs",
"transcript": "NM_001367287.1",
"protein_id": "NP_001354216.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 570,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 6216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1438_1442delCTTAA",
"hgvs_p": "p.Leu480fs",
"transcript": "ENST00000506587.5",
"protein_id": "ENSP00000425809.1",
"transcript_support_level": 2,
"aa_start": 480,
"aa_end": null,
"aa_length": 570,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1438_1442delCTTAA",
"hgvs_p": "p.Leu480fs",
"transcript": "ENST00000508748.6",
"protein_id": "ENSP00000424865.2",
"transcript_support_level": 5,
"aa_start": 480,
"aa_end": null,
"aa_length": 570,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "NM_001199919.2",
"protein_id": "NP_001186848.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 566,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "ENST00000509219.2",
"protein_id": "ENSP00000423389.2",
"transcript_support_level": 5,
"aa_start": 452,
"aa_end": null,
"aa_length": 566,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "ENST00000652468.1",
"protein_id": "ENSP00000499112.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 566,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "ENST00000507554.2",
"protein_id": "ENSP00000425558.2",
"transcript_support_level": 4,
"aa_start": 452,
"aa_end": null,
"aa_length": 542,
"cds_start": 1354,
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"cds_length": 1629,
"cdna_start": 1474,
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"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "ENST00000698526.1",
"protein_id": "ENSP00000513775.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 527,
"cds_start": 1354,
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"cds_length": 1584,
"cdna_start": 1457,
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"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1255_1259delCTTAA",
"hgvs_p": "p.Leu419fs",
"transcript": "ENST00000652222.2",
"protein_id": "ENSP00000499141.2",
"transcript_support_level": null,
"aa_start": 419,
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"cds_start": 1255,
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"cdna_start": 1348,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1255_1259delCTTAA",
"hgvs_p": "p.Leu419fs",
"transcript": "ENST00000698613.1",
"protein_id": "ENSP00000513839.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 494,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1348,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1111_1115delCTTAA",
"hgvs_p": "p.Leu371fs",
"transcript": "ENST00000651425.1",
"protein_id": "ENSP00000498986.1",
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"aa_start": 371,
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"cdna_start": 1264,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1111_1115delCTTAA",
"hgvs_p": "p.Leu371fs",
"transcript": "ENST00000698610.1",
"protein_id": "ENSP00000513837.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 461,
"cds_start": 1111,
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"cdna_start": 1229,
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"cdna_length": 4130,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1111_1115delCTTAA",
"hgvs_p": "p.Leu371fs",
"transcript": "NM_001199918.2",
"protein_id": "NP_001186847.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 441,
"cds_start": 1111,
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"cdna_start": 1241,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1012_1016delCTTAA",
"hgvs_p": "p.Leu338fs",
"transcript": "ENST00000698608.1",
"protein_id": "ENSP00000513835.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.916_920delCTTAA",
"hgvs_p": "p.Leu306fs",
"transcript": "ENST00000698612.1",
"protein_id": "ENSP00000513838.1",
"transcript_support_level": null,
"aa_start": 306,
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"aa_length": 396,
"cds_start": 916,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.430_434delCTTAA",
"hgvs_p": "p.Leu144fs",
"transcript": "ENST00000698525.1",
"protein_id": "ENSP00000513774.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 430,
"cds_end": null,
"cds_length": 660,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1354_1358delCTTAA",
"hgvs_p": "p.Leu452fs",
"transcript": "XM_047418876.1",
"protein_id": "XP_047274832.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 566,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
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],
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"splice_score_selected": null,
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"acmg_by_gene": [
{
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"verdict": "Pathogenic",
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"effects": [
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],
"clinvar_disease": "Immunodeficiency 23",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Immunodeficiency 23",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}