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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: 12-24881318-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=24881318&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 24881318,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001413086.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Val125Met",
"transcript": "NM_005504.7",
"protein_id": "NP_005495.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 386,
"cds_start": 373,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261192.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005504.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Val125Met",
"transcript": "ENST00000261192.12",
"protein_id": "ENSP00000261192.7",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 386,
"cds_start": 373,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005504.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261192.12"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Met",
"transcript": "ENST00000538118.5",
"protein_id": "ENSP00000440817.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 385,
"cds_start": 370,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538118.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "n.793G>A",
"hgvs_p": null,
"transcript": "ENST00000544418.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000544418.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "NM_001413086.1",
"protein_id": "NP_001400015.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 415,
"cds_start": 409,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413086.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Met",
"transcript": "NM_001413087.1",
"protein_id": "NP_001400016.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 410,
"cds_start": 445,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413087.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "NM_001413088.1",
"protein_id": "NP_001400017.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 407,
"cds_start": 409,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413088.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Met",
"transcript": "NM_001413089.1",
"protein_id": "NP_001400018.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 401,
"cds_start": 418,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413089.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "NM_001178093.2",
"protein_id": "NP_001171564.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 398,
"cds_start": 409,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178093.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "ENST00000539282.5",
"protein_id": "ENSP00000443459.1",
"transcript_support_level": 2,
"aa_start": 137,
"aa_end": null,
"aa_length": 398,
"cds_start": 409,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539282.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "NM_001413090.1",
"protein_id": "NP_001400019.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 397,
"cds_start": 409,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413090.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Val125Met",
"transcript": "ENST00000905147.1",
"protein_id": "ENSP00000575206.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 395,
"cds_start": 373,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905147.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Met",
"transcript": "NM_001413091.1",
"protein_id": "NP_001400020.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 394,
"cds_start": 370,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413091.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Met",
"transcript": "NM_001178094.2",
"protein_id": "NP_001171565.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 385,
"cds_start": 370,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178094.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Val125Met",
"transcript": "ENST00000916642.1",
"protein_id": "ENSP00000586701.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 385,
"cds_start": 373,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916642.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Met",
"transcript": "NM_001413092.1",
"protein_id": "NP_001400021.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 384,
"cds_start": 370,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413092.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Val112Met",
"transcript": "ENST00000916644.1",
"protein_id": "ENSP00000586703.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 373,
"cds_start": 334,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916644.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "NM_001413093.1",
"protein_id": "NP_001400022.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 372,
"cds_start": 331,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413093.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Met",
"transcript": "NM_001413094.1",
"protein_id": "NP_001400023.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 362,
"cds_start": 301,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413094.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "NM_001413096.1",
"protein_id": "NP_001400025.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 351,
"cds_start": 409,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413096.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Val125Met",
"transcript": "ENST00000916648.1",
"protein_id": "ENSP00000586707.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 346,
"cds_start": 373,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916648.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Met",
"transcript": "NM_001413097.1",
"protein_id": "NP_001400026.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 345,
"cds_start": 370,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413097.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
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}