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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: 16-87891874-CGA-TGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=87891874&ref=CGA&alt=TGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Moderate",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CA5A",
"hgnc_id": 1377,
"hgvs_c": "c.697_699delTCGinsCCA",
"hgvs_p": "p.Ser233Pro",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001739.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1_Moderate,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "S",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 778,
"cds_end": null,
"cds_length": 918,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001739.2",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.697_699delTCGinsCCA",
"hgvs_p": "p.Ser233Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649794.3",
"protein_coding": true,
"protein_id": "NP_001730.1",
"strand": false,
"transcript": "NM_001739.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "S",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 778,
"cds_end": null,
"cds_length": 918,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649794.3",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.697_699delTCGinsCCA",
"hgvs_p": "p.Ser233Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001739.2",
"protein_coding": true,
"protein_id": "ENSP00000498065.2",
"strand": false,
"transcript": "ENST00000649794.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 350,
"aa_ref": "S",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1241,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1053,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906212.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.832_834delTCGinsCCA",
"hgvs_p": "p.Ser278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576271.1",
"strand": false,
"transcript": "ENST00000906212.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 337,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1236,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1014,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906206.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.793_795delTCGinsCCA",
"hgvs_p": "p.Ser265Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576265.1",
"strand": false,
"transcript": "ENST00000906206.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1011,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906205.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.790_792delTCGinsCCA",
"hgvs_p": "p.Ser264Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576264.1",
"strand": false,
"transcript": "ENST00000906205.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 314,
"aa_ref": "S",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": 807,
"cds_end": null,
"cds_length": 945,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906211.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.724_726delTCGinsCCA",
"hgvs_p": "p.Ser242Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576270.1",
"strand": false,
"transcript": "ENST00000906211.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 303,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 779,
"cds_end": null,
"cds_length": 912,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906209.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.691_693delTCGinsCCA",
"hgvs_p": "p.Ser231Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576268.1",
"strand": false,
"transcript": "ENST00000906209.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 300,
"aa_ref": "S",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1244,
"cdna_start": 778,
"cds_end": null,
"cds_length": 903,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367225.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.697_699delTCGinsCCA",
"hgvs_p": "p.Ser233Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354154.1",
"strand": false,
"transcript": "NM_001367225.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 300,
"aa_ref": "S",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1298,
"cdna_start": 829,
"cds_end": null,
"cds_length": 903,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649158.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.697_699delTCGinsCCA",
"hgvs_p": "p.Ser233Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496993.1",
"strand": false,
"transcript": "ENST00000649158.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "S",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 727,
"cds_end": null,
"cds_length": 855,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906208.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.634_636delTCGinsCCA",
"hgvs_p": "p.Ser212Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576267.1",
"strand": false,
"transcript": "ENST00000906208.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 252,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 953,
"cdna_start": 619,
"cds_end": null,
"cds_length": 759,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906210.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.538_540delTCGinsCCA",
"hgvs_p": "p.Ser180Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576269.1",
"strand": false,
"transcript": "ENST00000906210.1",
"transcript_support_level": null
},
{
"aa_alt": "PT",
"aa_end": null,
"aa_length": 191,
"aa_ref": "LA",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 647,
"cds_end": null,
"cds_length": 576,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648177.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.515_517delTCGinsCCA",
"hgvs_p": "p.LeuAla172ProThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497626.1",
"strand": false,
"transcript": "ENST00000648177.1",
"transcript_support_level": null
},
{
"aa_alt": "PT",
"aa_end": null,
"aa_length": 159,
"aa_ref": "LA",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 575,
"cdna_start": 500,
"cds_end": null,
"cds_length": 480,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434595.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.419_421delTCGinsCCA",
"hgvs_p": "p.LeuAla140ProThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290551.1",
"strand": false,
"transcript": "XM_047434595.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": null,
"cds_end": null,
"cds_length": 762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906207.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "c.619-3604_619-3602delTCGinsCCA",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576266.1",
"strand": false,
"transcript": "ENST00000906207.1",
"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": 725,
"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": "ENST00000566402.2",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "n.393_395delTCGinsCCA",
"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": "ENST00000566402.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648022.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "n.*136_*138delTCGinsCCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497934.1",
"strand": false,
"transcript": "ENST00000648022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_159798.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "n.884_886delTCGinsCCA",
"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": "NR_159798.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_159799.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "n.657_659delTCGinsCCA",
"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": "NR_159799.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648022.1",
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"hgvs_c": "n.*136_*138delTCGinsCCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497934.1",
"strand": false,
"transcript": "ENST00000648022.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1377,
"gene_symbol": "CA5A",
"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,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.105,
"pos": 87891874,
"ref": "CGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001739.2"
}
]
}