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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: 1-225514840-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225514840&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225514840,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366843.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.974A>T",
"hgvs_p": "p.Gln325Leu",
"transcript": "NM_018212.6",
"protein_id": "NP_060682.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 570,
"cds_start": 974,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 13092,
"mane_select": "ENST00000366843.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.974A>T",
"hgvs_p": "p.Gln325Leu",
"transcript": "ENST00000366843.7",
"protein_id": "ENSP00000355808.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 570,
"cds_start": 974,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 13092,
"mane_select": "NM_018212.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.974A>T",
"hgvs_p": "p.Gln325Leu",
"transcript": "ENST00000366844.7",
"protein_id": "ENSP00000355809.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 591,
"cds_start": 974,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 13168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1715A>T",
"hgvs_p": "p.Gln572Leu",
"transcript": "NM_001420159.1",
"protein_id": "NP_001407088.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 838,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 13896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1658A>T",
"hgvs_p": "p.Gln553Leu",
"transcript": "NM_001420160.1",
"protein_id": "NP_001407089.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 819,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 13839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1670A>T",
"hgvs_p": "p.Gln557Leu",
"transcript": "ENST00000635051.1",
"protein_id": "ENSP00000489607.1",
"transcript_support_level": 5,
"aa_start": 557,
"aa_end": null,
"aa_length": 802,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1658A>T",
"hgvs_p": "p.Gln553Leu",
"transcript": "NM_001420161.1",
"protein_id": "NP_001407090.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 798,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 13776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1292A>T",
"hgvs_p": "p.Gln431Leu",
"transcript": "ENST00000696609.1",
"protein_id": "ENSP00000512753.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 697,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 13127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Gln344Leu",
"transcript": "NM_001377481.1",
"protein_id": "NP_001364410.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 610,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 13212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.974A>T",
"hgvs_p": "p.Gln325Leu",
"transcript": "NM_001008493.3",
"protein_id": "NP_001008493.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 591,
"cds_start": 974,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 13155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Gln344Leu",
"transcript": "NM_001377482.1",
"protein_id": "NP_001364411.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 589,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 13149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Gln288Leu",
"transcript": "NM_001420162.1",
"protein_id": "NP_001407091.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 554,
"cds_start": 863,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1296,
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"cdna_length": 13044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Gln288Leu",
"transcript": "NM_001377483.1",
"protein_id": "NP_001364412.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 533,
"cds_start": 863,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 12981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.2513A>T",
"hgvs_p": "p.Gln838Leu",
"transcript": "XM_024448305.2",
"protein_id": "XP_024304073.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
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"cds_start": 2513,
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"cdna_start": 2639,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.2501A>T",
"hgvs_p": "p.Gln834Leu",
"transcript": "XM_024448306.2",
"protein_id": "XP_024304074.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2501,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 14375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.2513A>T",
"hgvs_p": "p.Gln838Leu",
"transcript": "XM_024448307.2",
"protein_id": "XP_024304075.1",
"transcript_support_level": null,
"aa_start": 838,
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"cds_start": 2513,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.2444A>T",
"hgvs_p": "p.Gln815Leu",
"transcript": "XM_024448308.2",
"protein_id": "XP_024304076.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2444,
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"cds_length": 3246,
"cdna_start": 2570,
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"cdna_length": 14318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.2501A>T",
"hgvs_p": "p.Gln834Leu",
"transcript": "XM_024448318.2",
"protein_id": "XP_024304086.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2501,
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"cdna_start": 2627,
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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": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.2444A>T",
"hgvs_p": "p.Gln815Leu",
"transcript": "XM_024448319.2",
"protein_id": "XP_024304087.1",
"transcript_support_level": null,
"aa_start": 815,
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"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1829A>T",
"hgvs_p": "p.Gln610Leu",
"transcript": "XM_017001746.3",
"protein_id": "XP_016857235.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 876,
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"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1817A>T",
"hgvs_p": "p.Gln606Leu",
"transcript": "XM_011544229.3",
"protein_id": "XP_011542531.2",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 872,
"cds_start": 1817,
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"cdna_start": 1943,
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"cdna_length": 13691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1769A>T",
"hgvs_p": "p.Gln590Leu",
"transcript": "XM_024448309.2",
"protein_id": "XP_024304077.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 856,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2009,
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"cdna_length": 13757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENAH",
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"phenotype_combined": "not specified",
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}
],
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}