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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: 7-78019330-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=78019330&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 78019330,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_012301.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4353G>T",
"hgvs_p": "p.Ser1451Ser",
"transcript": "NM_012301.4",
"protein_id": "NP_036433.2",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4353,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4700,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000354212.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4353G>T",
"hgvs_p": "p.Ser1451Ser",
"transcript": "ENST00000354212.9",
"protein_id": "ENSP00000346151.4",
"transcript_support_level": 1,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4353,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4700,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_012301.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4311G>T",
"hgvs_p": "p.Ser1437Ser",
"transcript": "ENST00000419488.5",
"protein_id": "ENSP00000405766.1",
"transcript_support_level": 1,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4311,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4546,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4311G>T",
"hgvs_p": "p.Ser1437Ser",
"transcript": "NM_001301128.2",
"protein_id": "NP_001288057.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4311,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4658,
"cdna_end": null,
"cdna_length": 6933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4608G>T",
"hgvs_p": "p.Ser1536Ser",
"transcript": "XM_017012840.3",
"protein_id": "XP_016868329.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1540,
"cds_start": 4608,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 4955,
"cdna_end": null,
"cdna_length": 7230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4605G>T",
"hgvs_p": "p.Ser1535Ser",
"transcript": "XM_017012841.3",
"protein_id": "XP_016868330.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4605,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4952,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4602G>T",
"hgvs_p": "p.Ser1534Ser",
"transcript": "XM_017012842.3",
"protein_id": "XP_016868331.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4602,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 4949,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4566G>T",
"hgvs_p": "p.Ser1522Ser",
"transcript": "XM_017012843.3",
"protein_id": "XP_016868332.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4566,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 4913,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4482G>T",
"hgvs_p": "p.Ser1494Ser",
"transcript": "XM_017012844.3",
"protein_id": "XP_016868333.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4482,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 4829,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4479G>T",
"hgvs_p": "p.Ser1493Ser",
"transcript": "XM_011516718.3",
"protein_id": "XP_011515020.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4479,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4826,
"cdna_end": null,
"cdna_length": 7101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4473G>T",
"hgvs_p": "p.Ser1491Ser",
"transcript": "XM_017012845.3",
"protein_id": "XP_016868334.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4473,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 4820,
"cdna_end": null,
"cdna_length": 7095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4440G>T",
"hgvs_p": "p.Ser1480Ser",
"transcript": "XM_047421092.1",
"protein_id": "XP_047277048.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4440,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4787,
"cdna_end": null,
"cdna_length": 7062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4437G>T",
"hgvs_p": "p.Ser1479Ser",
"transcript": "XM_017012846.3",
"protein_id": "XP_016868335.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4437,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 4784,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4347G>T",
"hgvs_p": "p.Ser1449Ser",
"transcript": "XM_047421093.1",
"protein_id": "XP_047277049.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4347,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4694,
"cdna_end": null,
"cdna_length": 6969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4119G>T",
"hgvs_p": "p.Ser1373Ser",
"transcript": "XM_011516720.4",
"protein_id": "XP_011515022.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1377,
"cds_start": 4119,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 56949,
"cdna_end": null,
"cdna_length": 59224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4119G>T",
"hgvs_p": "p.Ser1373Ser",
"transcript": "XM_017012847.3",
"protein_id": "XP_016868336.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1377,
"cds_start": 4119,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 54908,
"cdna_end": null,
"cdna_length": 57183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3306G>T",
"hgvs_p": "p.Ser1102Ser",
"transcript": "XM_011516728.2",
"protein_id": "XP_011515030.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3306,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3582,
"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.*590G>T",
"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.*590G>T",
"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,
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"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.*590G>T",
"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.3532-115G>T",
"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
}
],
"gene_symbol": "MAGI2",
"gene_hgnc_id": 18957,
"dbsnp": "rs576579796",
"frequency_reference_population": 0.0000019377842,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 7.15984e-7,
"gnomad_genomes_af": 0.0000132031,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.424,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_012301.4",
"gene_symbol": "MAGI2",
"hgnc_id": 18957,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4353G>T",
"hgvs_p": "p.Ser1451Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}