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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: 12-122986298-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122986298&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122986298,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001384660.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3779G>T",
"hgvs_p": "p.Arg1260Leu",
"transcript": "NM_020845.3",
"protein_id": "NP_065896.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3779,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320201.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020845.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3779G>T",
"hgvs_p": "p.Arg1260Leu",
"transcript": "ENST00000320201.10",
"protein_id": "ENSP00000322218.4",
"transcript_support_level": 5,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3779,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020845.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320201.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3956G>T",
"hgvs_p": "p.Arg1319Leu",
"transcript": "NM_001384660.1",
"protein_id": "NP_001371589.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3956,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384660.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3779G>T",
"hgvs_p": "p.Arg1260Leu",
"transcript": "ENST00000876870.1",
"protein_id": "ENSP00000546929.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3779,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876870.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3761G>T",
"hgvs_p": "p.Arg1254Leu",
"transcript": "NM_001300801.2",
"protein_id": "NP_001287730.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3761,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300801.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3761G>T",
"hgvs_p": "p.Arg1254Leu",
"transcript": "NM_001384668.1",
"protein_id": "NP_001371597.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3761,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384668.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3761G>T",
"hgvs_p": "p.Arg1254Leu",
"transcript": "ENST00000280562.9",
"protein_id": "ENSP00000280562.5",
"transcript_support_level": 5,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3761,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280562.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3728G>T",
"hgvs_p": "p.Arg1243Leu",
"transcript": "ENST00000876869.1",
"protein_id": "ENSP00000546928.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3728,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876869.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3617G>T",
"hgvs_p": "p.Arg1206Leu",
"transcript": "NM_001384661.1",
"protein_id": "NP_001371590.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384661.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3617G>T",
"hgvs_p": "p.Arg1206Leu",
"transcript": "NM_001384663.1",
"protein_id": "NP_001371592.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384663.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3617G>T",
"hgvs_p": "p.Arg1206Leu",
"transcript": "ENST00000876871.1",
"protein_id": "ENSP00000546930.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876871.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3617G>T",
"hgvs_p": "p.Arg1206Leu",
"transcript": "ENST00000931311.1",
"protein_id": "ENSP00000601370.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931311.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3608G>T",
"hgvs_p": "p.Arg1203Leu",
"transcript": "NM_001384662.1",
"protein_id": "NP_001371591.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3608,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384662.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3608G>T",
"hgvs_p": "p.Arg1203Leu",
"transcript": "ENST00000876868.1",
"protein_id": "ENSP00000546927.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3608,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876868.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3566G>T",
"hgvs_p": "p.Arg1189Leu",
"transcript": "NM_001384664.1",
"protein_id": "NP_001371593.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384664.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4037G>T",
"hgvs_p": "p.Arg1346Leu",
"transcript": "XM_024449099.2",
"protein_id": "XP_024304867.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4037,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449099.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4037G>T",
"hgvs_p": "p.Arg1346Leu",
"transcript": "XM_047429200.1",
"protein_id": "XP_047285156.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4037,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429200.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4037G>T",
"hgvs_p": "p.Arg1346Leu",
"transcript": "XM_047429201.1",
"protein_id": "XP_047285157.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4037,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429201.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3941G>T",
"hgvs_p": "p.Arg1314Leu",
"transcript": "XM_047429202.1",
"protein_id": "XP_047285158.1",
"transcript_support_level": null,
"aa_start": 1314,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3941,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429202.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3893G>T",
"hgvs_p": "p.Arg1298Leu",
"transcript": "XM_047429203.1",
"protein_id": "XP_047285159.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429203.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3890G>T",
"hgvs_p": "p.Arg1297Leu",
"transcript": "XM_047429204.1",
"protein_id": "XP_047285160.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429204.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3839G>T",
"hgvs_p": "p.Arg1280Leu",
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