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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: 19-3751196-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3751196&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3751196,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004886.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Tyr550Cys",
"transcript": "NM_004886.4",
"protein_id": "NP_004877.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 575,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": "ENST00000316757.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004886.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Tyr550Cys",
"transcript": "ENST00000316757.4",
"protein_id": "ENSP00000315136.2",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 575,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": "NM_004886.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316757.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "n.4024A>G",
"hgvs_p": null,
"transcript": "ENST00000590064.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000590064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "n.536A>G",
"hgvs_p": null,
"transcript": "ENST00000591678.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591678.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.Tyr566Cys",
"transcript": "ENST00000861573.1",
"protein_id": "ENSP00000531632.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 591,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861573.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Tyr550Cys",
"transcript": "ENST00000861572.1",
"protein_id": "ENSP00000531631.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 575,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861572.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Tyr550Cys",
"transcript": "ENST00000861574.1",
"protein_id": "ENSP00000531633.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 575,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861574.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1646A>G",
"hgvs_p": "p.Tyr549Cys",
"transcript": "ENST00000931433.1",
"protein_id": "ENSP00000601492.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 574,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931433.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1646A>G",
"hgvs_p": "p.Tyr549Cys",
"transcript": "ENST00000931437.1",
"protein_id": "ENSP00000601496.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 574,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931437.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Tyr550Cys",
"transcript": "ENST00000931438.1",
"protein_id": "ENSP00000601497.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 571,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931438.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1592A>G",
"hgvs_p": "p.Tyr531Cys",
"transcript": "ENST00000931436.1",
"protein_id": "ENSP00000601495.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 556,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931436.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1529A>G",
"hgvs_p": "p.Tyr510Cys",
"transcript": "ENST00000931435.1",
"protein_id": "ENSP00000601494.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 535,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931435.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Tyr496Cys",
"transcript": "ENST00000861570.1",
"protein_id": "ENSP00000531629.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861570.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Tyr488Cys",
"transcript": "ENST00000931434.1",
"protein_id": "ENSP00000601493.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 513,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931434.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1436A>G",
"hgvs_p": "p.Tyr479Cys",
"transcript": "ENST00000931439.1",
"protein_id": "ENSP00000601498.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 504,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931439.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Tyr405Cys",
"transcript": "ENST00000861571.1",
"protein_id": "ENSP00000531630.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 430,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861571.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1753A>G",
"hgvs_p": "p.Met585Val",
"transcript": "XM_006722950.5",
"protein_id": "XP_006723013.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 650,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722950.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Met343Val",
"transcript": "XM_006722951.4",
"protein_id": "XP_006723014.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 408,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722951.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "n.1493A>G",
"hgvs_p": null,
"transcript": "ENST00000588984.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588984.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"hgvs_c": "n.*54A>G",
"hgvs_p": null,
"transcript": "ENST00000586991.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586991.1"
}
],
"gene_symbol": "APBA3",
"gene_hgnc_id": 580,
"dbsnp": "rs971082619",
"frequency_reference_population": 0.000015463598,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000107154,
"gnomad_genomes_af": 0.0000591405,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23661890625953674,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0629,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.657,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"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_004886.4",
"gene_symbol": "APBA3",
"hgnc_id": 580,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Tyr550Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}