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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: 19-3751515-GAC-CAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3751515&ref=GAC&alt=CAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APBA3",
"hgnc_id": 580,
"hgvs_c": "c.1432_1434delGTCinsTTG",
"hgvs_p": "p.Val478Leu",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_004886.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 575,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004886.4",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1432_1434delGTCinsTTG",
"hgvs_p": "p.Val478Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316757.4",
"protein_coding": true,
"protein_id": "NP_004877.1",
"strand": false,
"transcript": "NM_004886.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 575,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316757.4",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1432_1434delGTCinsTTG",
"hgvs_p": "p.Val478Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004886.4",
"protein_coding": true,
"protein_id": "ENSP00000315136.2",
"strand": false,
"transcript": "ENST00000316757.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000590064.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "n.3703_3705delGTCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000590064.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 575,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000591678.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "n.215_217delGTCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000591678.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "V",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1480,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861573.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1480_1482delGTCinsTTG",
"hgvs_p": "p.Val494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531632.1",
"strand": false,
"transcript": "ENST00000861573.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 575,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861572.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1432_1434delGTCinsTTG",
"hgvs_p": "p.Val478Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531631.1",
"strand": false,
"transcript": "ENST00000861572.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 575,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861574.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1432_1434delGTCinsTTG",
"hgvs_p": "p.Val478Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531633.1",
"strand": false,
"transcript": "ENST00000861574.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 574,
"aa_ref": "V",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931433.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1429_1431delGTCinsTTG",
"hgvs_p": "p.Val477Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601492.1",
"strand": false,
"transcript": "ENST00000931433.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 574,
"aa_ref": "V",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931437.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1429_1431delGTCinsTTG",
"hgvs_p": "p.Val477Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601496.1",
"strand": false,
"transcript": "ENST00000931437.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 571,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931438.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1432_1434delGTCinsTTG",
"hgvs_p": "p.Val478Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601497.1",
"strand": false,
"transcript": "ENST00000931438.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 556,
"aa_ref": "V",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1375,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931436.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1375_1377delGTCinsTTG",
"hgvs_p": "p.Val459Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601495.1",
"strand": false,
"transcript": "ENST00000931436.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 521,
"aa_ref": "V",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861570.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1270_1272delGTCinsTTG",
"hgvs_p": "p.Val424Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531629.1",
"strand": false,
"transcript": "ENST00000861570.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 513,
"aa_ref": "V",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931434.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1246_1248delGTCinsTTG",
"hgvs_p": "p.Val416Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601493.1",
"strand": false,
"transcript": "ENST00000931434.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 504,
"aa_ref": "V",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931439.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1219_1221delGTCinsTTG",
"hgvs_p": "p.Val407Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601498.1",
"strand": false,
"transcript": "ENST00000931439.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "V",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1293,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861571.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.997_999delGTCinsTTG",
"hgvs_p": "p.Val333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531630.1",
"strand": false,
"transcript": "ENST00000861571.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 650,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722950.5",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1432_1434delGTCinsTTG",
"hgvs_p": "p.Val478Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723013.1",
"strand": false,
"transcript": "XM_006722950.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 408,
"aa_ref": "V",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1227,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722951.4",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.706_708delGTCinsTTG",
"hgvs_p": "p.Val236Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723014.1",
"strand": false,
"transcript": "XM_006722951.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931435.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "c.1396-188_1396-186delGTCinsTTG",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601494.1",
"strand": false,
"transcript": "ENST00000931435.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000586991.1",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "n.378_380delGTCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000586991.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000588984.5",
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"hgvs_c": "n.1276_1278delGTCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588984.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 580,
"gene_symbol": "APBA3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
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"transcript": "NM_004886.4"
}
]
}