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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: 2-85551943-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85551943&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85551943,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000233838.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1478G>T",
"hgvs_p": "p.Trp493Leu",
"transcript": "NM_000821.7",
"protein_id": "NP_000812.2",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 758,
"cds_start": 1478,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 7556,
"mane_select": "ENST00000233838.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1478G>T",
"hgvs_p": "p.Trp493Leu",
"transcript": "ENST00000233838.9",
"protein_id": "ENSP00000233838.3",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 758,
"cds_start": 1478,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 7556,
"mane_select": "NM_000821.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1409G>T",
"hgvs_p": "p.Trp470Leu",
"transcript": "ENST00000689276.1",
"protein_id": "ENSP00000510012.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 735,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1307G>T",
"hgvs_p": "p.Trp436Leu",
"transcript": "NM_001142269.4",
"protein_id": "NP_001135741.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 701,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1307G>T",
"hgvs_p": "p.Trp436Leu",
"transcript": "ENST00000430215.7",
"protein_id": "ENSP00000408045.3",
"transcript_support_level": 2,
"aa_start": 436,
"aa_end": null,
"aa_length": 701,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Trp268Leu",
"transcript": "ENST00000690595.1",
"protein_id": "ENSP00000508979.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 533,
"cds_start": 803,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.794G>T",
"hgvs_p": "p.Trp265Leu",
"transcript": "ENST00000693287.1",
"protein_id": "ENSP00000510264.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 530,
"cds_start": 794,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.791G>T",
"hgvs_p": "p.Trp264Leu",
"transcript": "ENST00000693681.1",
"protein_id": "ENSP00000510789.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 529,
"cds_start": 791,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1478G>T",
"hgvs_p": "p.Trp493Leu",
"transcript": "XM_005264259.6",
"protein_id": "XP_005264316.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 756,
"cds_start": 1478,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1307G>T",
"hgvs_p": "p.Trp436Leu",
"transcript": "XM_017003803.3",
"protein_id": "XP_016859292.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 699,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.656G>T",
"hgvs_p": "p.Trp219Leu",
"transcript": "XM_047443919.1",
"protein_id": "XP_047299875.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 484,
"cds_start": 656,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 6709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.5956G>T",
"hgvs_p": null,
"transcript": "ENST00000473665.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.4363G>T",
"hgvs_p": null,
"transcript": "ENST00000482662.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.2315G>T",
"hgvs_p": null,
"transcript": "ENST00000685865.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.2015G>T",
"hgvs_p": null,
"transcript": "ENST00000687250.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1830G>T",
"hgvs_p": null,
"transcript": "ENST00000687995.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*1071G>T",
"hgvs_p": null,
"transcript": "ENST00000688205.1",
"protein_id": "ENSP00000509673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1717G>T",
"hgvs_p": null,
"transcript": "ENST00000688788.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*97G>T",
"hgvs_p": null,
"transcript": "ENST00000689576.1",
"protein_id": "ENSP00000508712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*1134G>T",
"hgvs_p": null,
"transcript": "ENST00000690108.1",
"protein_id": "ENSP00000510617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*30G>T",
"hgvs_p": null,
"transcript": "ENST00000690468.1",
"protein_id": "ENSP00000509078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*30G>T",
"hgvs_p": null,
"transcript": "ENST00000691348.1",
"protein_id": "ENSP00000509369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*1055G>T",
"hgvs_p": null,
"transcript": "ENST00000691410.1",
"protein_id": "ENSP00000508479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
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}