← Back to variant description
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: 7-78019684-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=78019684&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 78019684,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000354212.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3998delG",
"hgvs_p": "p.Gly1333fs",
"transcript": "NM_012301.4",
"protein_id": "NP_036433.2",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3998,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4345,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000354212.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3998delG",
"hgvs_p": "p.Gly1333fs",
"transcript": "ENST00000354212.9",
"protein_id": "ENSP00000346151.4",
"transcript_support_level": 1,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3998,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4345,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_012301.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3956delG",
"hgvs_p": "p.Gly1319fs",
"transcript": "ENST00000419488.5",
"protein_id": "ENSP00000405766.1",
"transcript_support_level": 1,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3956,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4191,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3956delG",
"hgvs_p": "p.Gly1319fs",
"transcript": "NM_001301128.2",
"protein_id": "NP_001288057.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3956,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4303,
"cdna_end": null,
"cdna_length": 6933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4253delG",
"hgvs_p": "p.Gly1418fs",
"transcript": "XM_017012840.3",
"protein_id": "XP_016868329.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1540,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 4600,
"cdna_end": null,
"cdna_length": 7230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4250delG",
"hgvs_p": "p.Gly1417fs",
"transcript": "XM_017012841.3",
"protein_id": "XP_016868330.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4250,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4597,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4247delG",
"hgvs_p": "p.Gly1416fs",
"transcript": "XM_017012842.3",
"protein_id": "XP_016868331.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4247,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 4594,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4211delG",
"hgvs_p": "p.Gly1404fs",
"transcript": "XM_017012843.3",
"protein_id": "XP_016868332.1",
"transcript_support_level": null,
"aa_start": 1404,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4211,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 4558,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4127delG",
"hgvs_p": "p.Gly1376fs",
"transcript": "XM_017012844.3",
"protein_id": "XP_016868333.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4127,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4124delG",
"hgvs_p": "p.Gly1375fs",
"transcript": "XM_011516718.3",
"protein_id": "XP_011515020.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4124,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4471,
"cdna_end": null,
"cdna_length": 7101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4118delG",
"hgvs_p": "p.Gly1373fs",
"transcript": "XM_017012845.3",
"protein_id": "XP_016868334.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4118,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 4465,
"cdna_end": null,
"cdna_length": 7095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4085delG",
"hgvs_p": "p.Gly1362fs",
"transcript": "XM_047421092.1",
"protein_id": "XP_047277048.1",
"transcript_support_level": null,
"aa_start": 1362,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4085,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4432,
"cdna_end": null,
"cdna_length": 7062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4082delG",
"hgvs_p": "p.Gly1361fs",
"transcript": "XM_017012846.3",
"protein_id": "XP_016868335.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4082,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 4429,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3992delG",
"hgvs_p": "p.Gly1331fs",
"transcript": "XM_047421093.1",
"protein_id": "XP_047277049.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3992,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4339,
"cdna_end": null,
"cdna_length": 6969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3764delG",
"hgvs_p": "p.Gly1255fs",
"transcript": "XM_011516720.4",
"protein_id": "XP_011515022.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3764,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 56594,
"cdna_end": null,
"cdna_length": 59224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3764delG",
"hgvs_p": "p.Gly1255fs",
"transcript": "XM_017012847.3",
"protein_id": "XP_016868336.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3764,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 54553,
"cdna_end": null,
"cdna_length": 57183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.2951delG",
"hgvs_p": "p.Gly984fs",
"transcript": "XM_011516728.2",
"protein_id": "XP_011515030.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.*235delG",
"hgvs_p": null,
"transcript": "ENST00000522391.3",
"protein_id": "ENSP00000428389.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1283,
"cds_start": -4,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.*235delG",
"hgvs_p": null,
"transcript": "ENST00000626691.2",
"protein_id": "ENSP00000486131.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1120,
"cds_start": -4,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.*235delG",
"hgvs_p": null,
"transcript": "ENST00000629359.2",
"protein_id": "ENSP00000487448.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1106,
"cds_start": -4,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.3531+239delG",
"hgvs_p": null,
"transcript": "ENST00000637441.1",
"protein_id": "ENSP00000489633.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1206,
"cds_start": -4,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.*217delG",
"hgvs_p": null,
"transcript": "ENST00000637585.1",
"protein_id": "ENSP00000490629.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"dbsnp": "rs1135402911",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.376,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000354212.9",
"gene_symbol": "MAGI2",
"hgnc_id": 18957,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3998delG",
"hgvs_p": "p.Gly1333fs"
}
],
"clinvar_disease": "Nephrotic syndrome 15",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Nephrotic syndrome 15",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}