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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: 7-78019467-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=78019467&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 78019467,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012301.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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.4216G>A",
"hgvs_p": "p.Ala1406Thr",
"transcript": "NM_012301.4",
"protein_id": "NP_036433.2",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4216,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4563,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000354212.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4216G>A",
"hgvs_p": "p.Ala1406Thr",
"transcript": "ENST00000354212.9",
"protein_id": "ENSP00000346151.4",
"transcript_support_level": 1,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4216,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4563,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_012301.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4174G>A",
"hgvs_p": "p.Ala1392Thr",
"transcript": "ENST00000419488.5",
"protein_id": "ENSP00000405766.1",
"transcript_support_level": 1,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4174,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4409,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4174G>A",
"hgvs_p": "p.Ala1392Thr",
"transcript": "NM_001301128.2",
"protein_id": "NP_001288057.1",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4174,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4521,
"cdna_end": null,
"cdna_length": 6933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4471G>A",
"hgvs_p": "p.Ala1491Thr",
"transcript": "XM_017012840.3",
"protein_id": "XP_016868329.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1540,
"cds_start": 4471,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 4818,
"cdna_end": null,
"cdna_length": 7230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4468G>A",
"hgvs_p": "p.Ala1490Thr",
"transcript": "XM_017012841.3",
"protein_id": "XP_016868330.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4468,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4815,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4465G>A",
"hgvs_p": "p.Ala1489Thr",
"transcript": "XM_017012842.3",
"protein_id": "XP_016868331.1",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4465,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 4812,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4429G>A",
"hgvs_p": "p.Ala1477Thr",
"transcript": "XM_017012843.3",
"protein_id": "XP_016868332.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4429,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 4776,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4345G>A",
"hgvs_p": "p.Ala1449Thr",
"transcript": "XM_017012844.3",
"protein_id": "XP_016868333.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 4692,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4342G>A",
"hgvs_p": "p.Ala1448Thr",
"transcript": "XM_011516718.3",
"protein_id": "XP_011515020.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4342,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4689,
"cdna_end": null,
"cdna_length": 7101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4336G>A",
"hgvs_p": "p.Ala1446Thr",
"transcript": "XM_017012845.3",
"protein_id": "XP_016868334.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4336,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 7095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4303G>A",
"hgvs_p": "p.Ala1435Thr",
"transcript": "XM_047421092.1",
"protein_id": "XP_047277048.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4303,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4650,
"cdna_end": null,
"cdna_length": 7062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4300G>A",
"hgvs_p": "p.Ala1434Thr",
"transcript": "XM_017012846.3",
"protein_id": "XP_016868335.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4300,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 4647,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.4210G>A",
"hgvs_p": "p.Ala1404Thr",
"transcript": "XM_047421093.1",
"protein_id": "XP_047277049.1",
"transcript_support_level": null,
"aa_start": 1404,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4210,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4557,
"cdna_end": null,
"cdna_length": 6969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.3982G>A",
"hgvs_p": "p.Ala1328Thr",
"transcript": "XM_011516720.4",
"protein_id": "XP_011515022.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 56812,
"cdna_end": null,
"cdna_length": 59224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.3982G>A",
"hgvs_p": "p.Ala1328Thr",
"transcript": "XM_017012847.3",
"protein_id": "XP_016868336.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 54771,
"cdna_end": null,
"cdna_length": 57183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.3169G>A",
"hgvs_p": "p.Ala1057Thr",
"transcript": "XM_011516728.2",
"protein_id": "XP_011515030.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3445,
"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.*453G>A",
"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.*453G>A",
"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.*453G>A",
"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.3532-252G>A",
"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": "rs952272424",
"frequency_reference_population": 0.00008359636,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000239423,
"gnomad_genomes_af": 0.000425929,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 62,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06004852056503296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0937,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.846,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_012301.4",
"gene_symbol": "MAGI2",
"hgnc_id": 18957,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4216G>A",
"hgvs_p": "p.Ala1406Thr"
}
],
"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
}