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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: 12-54961249-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54961249&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54961249,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000449076.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "NM_001136030.3",
"protein_id": "NP_001129502.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": "ENST00000449076.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "ENST00000449076.6",
"protein_id": "ENSP00000400892.1",
"transcript_support_level": 2,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": "NM_001136030.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "ENST00000316577.12",
"protein_id": "ENSP00000312679.8",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "ENST00000524622.5",
"protein_id": "ENSP00000435622.1",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 383,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "NM_001098815.3",
"protein_id": "NP_001092285.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "NM_001351149.2",
"protein_id": "NP_001338078.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "NM_001261844.1",
"protein_id": "NP_001248773.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 383,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "NM_001351148.1",
"protein_id": "NP_001338077.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 383,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "NM_014796.2",
"protein_id": "NP_055611.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 383,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "ENST00000531122.5",
"protein_id": "ENSP00000433098.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 383,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "ENST00000532804.5",
"protein_id": "ENSP00000432030.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 383,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "NM_001351150.1",
"protein_id": "NP_001338079.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 312,
"cds_start": 859,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys",
"transcript": "NM_001351151.1",
"protein_id": "NP_001338080.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 268,
"cds_start": 727,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys",
"transcript": "NM_001351152.1",
"protein_id": "NP_001338081.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 268,
"cds_start": 727,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys",
"transcript": "NM_001351153.1",
"protein_id": "NP_001338082.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 268,
"cds_start": 727,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys",
"transcript": "NM_001351154.1",
"protein_id": "NP_001338083.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 268,
"cds_start": 727,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys",
"transcript": "NM_001351155.1",
"protein_id": "NP_001338084.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 268,
"cds_start": 727,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 3658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "XM_006719715.4",
"protein_id": "XP_006719778.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "XM_011539035.3",
"protein_id": "XP_011537337.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "XM_011539037.4",
"protein_id": "XP_011537339.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "XM_017020262.2",
"protein_id": "XP_016875751.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Glu496Lys",
"transcript": "XM_017020263.2",
"protein_id": "XP_016875752.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
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