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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: 16-87901974-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=87901974&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 87901974,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001739.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Leu186Val",
"transcript": "NM_001739.2",
"protein_id": "NP_001730.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 305,
"cds_start": 556,
"cds_end": null,
"cds_length": 918,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": "ENST00000649794.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001739.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Leu186Val",
"transcript": "ENST00000649794.3",
"protein_id": "ENSP00000498065.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 305,
"cds_start": 556,
"cds_end": null,
"cds_length": 918,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": "NM_001739.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649794.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.583C>G",
"hgvs_p": "p.Leu195Val",
"transcript": "ENST00000906211.1",
"protein_id": "ENSP00000576270.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 314,
"cds_start": 583,
"cds_end": null,
"cds_length": 945,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906211.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.691C>G",
"hgvs_p": "p.Leu231Val",
"transcript": "ENST00000906212.1",
"protein_id": "ENSP00000576271.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 350,
"cds_start": 691,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906212.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Leu218Val",
"transcript": "ENST00000906206.1",
"protein_id": "ENSP00000576265.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 337,
"cds_start": 652,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906206.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Leu217Val",
"transcript": "ENST00000906205.1",
"protein_id": "ENSP00000576264.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 336,
"cds_start": 649,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906205.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.550C>G",
"hgvs_p": "p.Leu184Val",
"transcript": "ENST00000906209.1",
"protein_id": "ENSP00000576268.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 303,
"cds_start": 550,
"cds_end": null,
"cds_length": 912,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906209.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Leu186Val",
"transcript": "NM_001367225.1",
"protein_id": "NP_001354154.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 300,
"cds_start": 556,
"cds_end": null,
"cds_length": 903,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367225.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Leu186Val",
"transcript": "ENST00000649158.1",
"protein_id": "ENSP00000496993.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 300,
"cds_start": 556,
"cds_end": null,
"cds_length": 903,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649158.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Leu186Val",
"transcript": "ENST00000906207.1",
"protein_id": "ENSP00000576266.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 253,
"cds_start": 556,
"cds_end": null,
"cds_length": 762,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906207.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "XM_047434594.1",
"protein_id": "XP_047290550.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 165,
"cds_start": 437,
"cds_end": null,
"cds_length": 498,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434594.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.555+451C>G",
"hgvs_p": null,
"transcript": "ENST00000906208.1",
"protein_id": "ENSP00000576267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": null,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906208.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.459+2812C>G",
"hgvs_p": null,
"transcript": "ENST00000906210.1",
"protein_id": "ENSP00000576269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906210.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.436+451C>G",
"hgvs_p": null,
"transcript": "ENST00000648177.1",
"protein_id": "ENSP00000497626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648177.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.341-10020C>G",
"hgvs_p": null,
"transcript": "XM_047434595.1",
"protein_id": "XP_047290551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434595.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "n.556C>G",
"hgvs_p": null,
"transcript": "ENST00000648022.1",
"protein_id": "ENSP00000497934.1",
"transcript_support_level": null,
"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": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "n.635C>G",
"hgvs_p": null,
"transcript": "NR_159798.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "n.516C>G",
"hgvs_p": null,
"transcript": "NR_159799.1",
"protein_id": null,
"transcript_support_level": null,
"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": 994,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159799.1"
}
],
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"dbsnp": "rs375321548",
"frequency_reference_population": 6.8429125e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84291e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18681538105010986,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1459999978542328,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.539,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000233181346097012,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001739.2",
"gene_symbol": "CA5A",
"hgnc_id": 1377,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Leu186Val"
}
],
"clinvar_disease": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}