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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: 18-9914267-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=9914267&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VAPA",
"hgnc_id": 12648,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003574.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.2627,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19046902656555176,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6801,
"cdna_start": 252,
"cds_end": null,
"cds_length": 750,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_194434.3",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400000.7",
"protein_coding": true,
"protein_id": "NP_919415.2",
"strand": true,
"transcript": "NM_194434.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6801,
"cdna_start": 252,
"cds_end": null,
"cds_length": 750,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000400000.7",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194434.3",
"protein_coding": true,
"protein_id": "ENSP00000382880.3",
"strand": true,
"transcript": "ENST00000400000.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 316,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 18,
"cds_end": null,
"cds_length": 951,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971051.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641110.1",
"strand": true,
"transcript": "ENST00000971051.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6936,
"cdna_start": 252,
"cds_end": null,
"cds_length": 885,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_003574.6",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003565.4",
"strand": true,
"transcript": "NM_003574.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": 206,
"cds_end": null,
"cds_length": 885,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000340541.4",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345656.4",
"strand": true,
"transcript": "ENST00000340541.4",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 267,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 229,
"cds_end": null,
"cds_length": 804,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000928107.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598166.1",
"strand": true,
"transcript": "ENST00000928107.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 252,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 215,
"cds_end": null,
"cds_length": 759,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971050.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641109.1",
"strand": true,
"transcript": "ENST00000971050.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 250,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 229,
"cds_end": null,
"cds_length": 753,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000897660.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567719.1",
"strand": true,
"transcript": "ENST00000897660.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 245,
"cds_end": null,
"cds_length": 747,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000928106.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598165.1",
"strand": true,
"transcript": "ENST00000928106.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 352,
"cds_end": null,
"cds_length": 747,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971047.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641106.1",
"strand": true,
"transcript": "ENST00000971047.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 238,
"cds_end": null,
"cds_length": 747,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971048.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641107.1",
"strand": true,
"transcript": "ENST00000971048.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 246,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 265,
"cds_end": null,
"cds_length": 741,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971049.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641108.1",
"strand": true,
"transcript": "ENST00000971049.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 243,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 47,
"cds_end": null,
"cds_length": 732,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000897662.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567721.1",
"strand": true,
"transcript": "ENST00000897662.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 222,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 252,
"cds_end": null,
"cds_length": 669,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000897661.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567720.1",
"strand": true,
"transcript": "ENST00000897661.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 198,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 290,
"cds_end": null,
"cds_length": 597,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000897659.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567718.1",
"strand": true,
"transcript": "ENST00000897659.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 191,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 229,
"cds_end": null,
"cds_length": 576,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000928108.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598167.1",
"strand": true,
"transcript": "ENST00000928108.1",
"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": 917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000577901.5",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "n.216C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000577901.5",
"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": 567,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000585042.5",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "n.11C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463155.1",
"strand": true,
"transcript": "ENST00000585042.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200684323",
"effect": "missense_variant",
"frequency_reference_population": 0.000001892403,
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000139557,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657099,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.025,
"pos": 9914267,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.064,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003574.6"
}
]
}