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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: 7-78019391-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=78019391&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 78019391,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012301.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4292C>T",
"hgvs_p": "p.Pro1431Leu",
"transcript": "NM_012301.4",
"protein_id": "NP_036433.2",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4292,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000354212.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4292C>T",
"hgvs_p": "p.Pro1431Leu",
"transcript": "ENST00000354212.9",
"protein_id": "ENSP00000346151.4",
"transcript_support_level": 1,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4292,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_012301.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4250C>T",
"hgvs_p": "p.Pro1417Leu",
"transcript": "ENST00000419488.5",
"protein_id": "ENSP00000405766.1",
"transcript_support_level": 1,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4250,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4485,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4250C>T",
"hgvs_p": "p.Pro1417Leu",
"transcript": "NM_001301128.2",
"protein_id": "NP_001288057.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4250,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4597,
"cdna_end": null,
"cdna_length": 6933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4547C>T",
"hgvs_p": "p.Pro1516Leu",
"transcript": "XM_017012840.3",
"protein_id": "XP_016868329.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1540,
"cds_start": 4547,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 4894,
"cdna_end": null,
"cdna_length": 7230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4544C>T",
"hgvs_p": "p.Pro1515Leu",
"transcript": "XM_017012841.3",
"protein_id": "XP_016868330.1",
"transcript_support_level": null,
"aa_start": 1515,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4544,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4891,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4541C>T",
"hgvs_p": "p.Pro1514Leu",
"transcript": "XM_017012842.3",
"protein_id": "XP_016868331.1",
"transcript_support_level": null,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4541,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 4888,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4505C>T",
"hgvs_p": "p.Pro1502Leu",
"transcript": "XM_017012843.3",
"protein_id": "XP_016868332.1",
"transcript_support_level": null,
"aa_start": 1502,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4505,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 4852,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4421C>T",
"hgvs_p": "p.Pro1474Leu",
"transcript": "XM_017012844.3",
"protein_id": "XP_016868333.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4421,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 4768,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4418C>T",
"hgvs_p": "p.Pro1473Leu",
"transcript": "XM_011516718.3",
"protein_id": "XP_011515020.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4418,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4765,
"cdna_end": null,
"cdna_length": 7101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4412C>T",
"hgvs_p": "p.Pro1471Leu",
"transcript": "XM_017012845.3",
"protein_id": "XP_016868334.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4412,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 4759,
"cdna_end": null,
"cdna_length": 7095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4379C>T",
"hgvs_p": "p.Pro1460Leu",
"transcript": "XM_047421092.1",
"protein_id": "XP_047277048.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4379,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4726,
"cdna_end": null,
"cdna_length": 7062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4376C>T",
"hgvs_p": "p.Pro1459Leu",
"transcript": "XM_017012846.3",
"protein_id": "XP_016868335.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4376,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 4723,
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"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4286C>T",
"hgvs_p": "p.Pro1429Leu",
"transcript": "XM_047421093.1",
"protein_id": "XP_047277049.1",
"transcript_support_level": null,
"aa_start": 1429,
"aa_end": null,
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"cds_start": 4286,
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"cdna_start": 4633,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4058C>T",
"hgvs_p": "p.Pro1353Leu",
"transcript": "XM_011516720.4",
"protein_id": "XP_011515022.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1377,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 56888,
"cdna_end": null,
"cdna_length": 59224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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": "MAGI2",
"gene_hgnc_id": 18957,
"hgvs_c": "c.4058C>T",
"hgvs_p": "p.Pro1353Leu",
"transcript": "XM_017012847.3",
"protein_id": "XP_016868336.1",
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"aa_start": 1353,
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"aa_length": 1377,
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"cdna_start": 54847,
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"cdna_length": 57183,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3245C>T",
"hgvs_p": "p.Pro1082Leu",
"transcript": "XM_011516728.2",
"protein_id": "XP_011515030.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3245,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3521,
"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.*529C>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,
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"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.*529C>T",
"hgvs_p": null,
"transcript": "ENST00000626691.2",
"protein_id": "ENSP00000486131.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 1120,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.*529C>T",
"hgvs_p": null,
"transcript": "ENST00000629359.2",
"protein_id": "ENSP00000487448.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.3532-176C>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": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45223143696784973,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.226,
"revel_prediction": "Benign",
"alphamissense_score": 0.3354,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.98,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012301.4",
"gene_symbol": "MAGI2",
"hgnc_id": 18957,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4292C>T",
"hgvs_p": "p.Pro1431Leu"
}
],
"clinvar_disease": "Nephrotic syndrome 15",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Nephrotic syndrome 15",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}