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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: 1-225514636-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225514636&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225514636,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000366843.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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.1178C>G",
"hgvs_p": "p.Ala393Gly",
"transcript": "NM_018212.6",
"protein_id": "NP_060682.2",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 570,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 13092,
"mane_select": "ENST00000366843.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1178C>G",
"hgvs_p": "p.Ala393Gly",
"transcript": "ENST00000366843.7",
"protein_id": "ENSP00000355808.2",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 570,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 13092,
"mane_select": "NM_018212.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1178C>G",
"hgvs_p": "p.Ala393Gly",
"transcript": "ENST00000366844.7",
"protein_id": "ENSP00000355809.2",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 591,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 13168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1919C>G",
"hgvs_p": "p.Ala640Gly",
"transcript": "NM_001420159.1",
"protein_id": "NP_001407088.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 838,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 13896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1862C>G",
"hgvs_p": "p.Ala621Gly",
"transcript": "NM_001420160.1",
"protein_id": "NP_001407089.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 819,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 13839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1874C>G",
"hgvs_p": "p.Ala625Gly",
"transcript": "ENST00000635051.1",
"protein_id": "ENSP00000489607.1",
"transcript_support_level": 5,
"aa_start": 625,
"aa_end": null,
"aa_length": 802,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1862C>G",
"hgvs_p": "p.Ala621Gly",
"transcript": "NM_001420161.1",
"protein_id": "NP_001407090.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 798,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 13776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1496C>G",
"hgvs_p": "p.Ala499Gly",
"transcript": "ENST00000696609.1",
"protein_id": "ENSP00000512753.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 697,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 13127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1235C>G",
"hgvs_p": "p.Ala412Gly",
"transcript": "NM_001377481.1",
"protein_id": "NP_001364410.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 610,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 13212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1178C>G",
"hgvs_p": "p.Ala393Gly",
"transcript": "NM_001008493.3",
"protein_id": "NP_001008493.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 591,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 13155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1235C>G",
"hgvs_p": "p.Ala412Gly",
"transcript": "NM_001377482.1",
"protein_id": "NP_001364411.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 589,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 13149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1067C>G",
"hgvs_p": "p.Ala356Gly",
"transcript": "NM_001420162.1",
"protein_id": "NP_001407091.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 554,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 13044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1067C>G",
"hgvs_p": "p.Ala356Gly",
"transcript": "NM_001377483.1",
"protein_id": "NP_001364412.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 533,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 12981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2717C>G",
"hgvs_p": "p.Ala906Gly",
"transcript": "XM_024448305.2",
"protein_id": "XP_024304073.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2717,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 14387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2705C>G",
"hgvs_p": "p.Ala902Gly",
"transcript": "XM_024448306.2",
"protein_id": "XP_024304074.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2705,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 14375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2717C>G",
"hgvs_p": "p.Ala906Gly",
"transcript": "XM_024448307.2",
"protein_id": "XP_024304075.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2717,
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"cds_length": 3252,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 14324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2648C>G",
"hgvs_p": "p.Ala883Gly",
"transcript": "XM_024448308.2",
"protein_id": "XP_024304076.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2648,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 14318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2705C>G",
"hgvs_p": "p.Ala902Gly",
"transcript": "XM_024448318.2",
"protein_id": "XP_024304086.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2705,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 14312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2648C>G",
"hgvs_p": "p.Ala883Gly",
"transcript": "XM_024448319.2",
"protein_id": "XP_024304087.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2648,
"cds_end": null,
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"cdna_start": 2774,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2033C>G",
"hgvs_p": "p.Ala678Gly",
"transcript": "XM_017001746.3",
"protein_id": "XP_016857235.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 876,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 13703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.2021C>G",
"hgvs_p": "p.Ala674Gly",
"transcript": "XM_011544229.3",
"protein_id": "XP_011542531.2",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 872,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 13691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "XM_024448309.2",
"protein_id": "XP_024304077.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 856,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 13757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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",
"gene_hgnc_id": 18271,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
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}