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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: 12-48139349-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48139349&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48139349,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000359794.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "NM_000289.6",
"protein_id": "NP_000280.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": "ENST00000359794.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "ENST00000359794.11",
"protein_id": "ENSP00000352842.5",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": "NM_000289.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "ENST00000312352.11",
"protein_id": "ENSP00000309438.7",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "ENST00000547587.5",
"protein_id": "ENSP00000449426.1",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.1451G>T",
"hgvs_p": null,
"transcript": "ENST00000546964.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1436G>T",
"hgvs_p": "p.Arg479Leu",
"transcript": "NM_001354735.1",
"protein_id": "NP_001341664.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 883,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1436G>T",
"hgvs_p": "p.Arg479Leu",
"transcript": "NM_001354736.1",
"protein_id": "NP_001341665.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 883,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1436G>T",
"hgvs_p": "p.Arg479Leu",
"transcript": "ENST00000642730.1",
"protein_id": "ENSP00000496597.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 883,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "ENST00000550257.7",
"protein_id": "ENSP00000447997.3",
"transcript_support_level": 4,
"aa_start": 450,
"aa_end": null,
"aa_length": 854,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "NM_001166686.2",
"protein_id": "NP_001160158.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1340,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "NM_001354737.1",
"protein_id": "NP_001341666.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1340,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "NM_001354738.1",
"protein_id": "NP_001341667.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1340,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "NM_001354739.1",
"protein_id": "NP_001341668.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1340,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"transcript": "ENST00000340802.12",
"protein_id": "ENSP00000345771.6",
"transcript_support_level": 2,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1340,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1271G>T",
"hgvs_p": "p.Arg424Leu",
"transcript": "NM_001354740.1",
"protein_id": "NP_001341669.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 828,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1247G>T",
"hgvs_p": "p.Arg416Leu",
"transcript": "NM_001439058.1",
"protein_id": "NP_001425987.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 820,
"cds_start": 1247,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "NM_001354741.2",
"protein_id": "NP_001341670.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 788,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "NM_001166687.2",
"protein_id": "NP_001160159.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
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"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "NM_001166688.2",
"protein_id": "NP_001160160.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "NM_001354742.2",
"protein_id": "NP_001341671.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
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"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "NM_001354743.2",
"protein_id": "NP_001341672.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "NM_001354744.2",
"protein_id": "NP_001341673.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 780,
"cds_start": 1127,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1226,
"cdna_end": null,
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{
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}
],
"message": null
}