← Back to variant description
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: 11-65045426-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65045426&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65045426,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005468.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Ile",
"transcript": "NM_005468.3",
"protein_id": "NP_005459.2",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 740,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358658.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005468.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Ile",
"transcript": "ENST00000358658.8",
"protein_id": "ENSP00000351484.3",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 740,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005468.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358658.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "n.2195G>A",
"hgvs_p": null,
"transcript": "ENST00000528977.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528977.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "n.2237G>A",
"hgvs_p": null,
"transcript": "ENST00000529274.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529274.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.2221G>A",
"hgvs_p": "p.Val741Ile",
"transcript": "ENST00000340252.8",
"protein_id": "ENSP00000344244.4",
"transcript_support_level": 5,
"aa_start": 741,
"aa_end": null,
"aa_length": 791,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340252.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Val655Ile",
"transcript": "ENST00000356632.7",
"protein_id": "ENSP00000349045.3",
"transcript_support_level": 5,
"aa_start": 655,
"aa_end": null,
"aa_length": 705,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356632.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Val649Ile",
"transcript": "ENST00000355721.7",
"protein_id": "ENSP00000347955.3",
"transcript_support_level": 5,
"aa_start": 649,
"aa_end": null,
"aa_length": 699,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355721.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000526799.5",
"protein_id": "ENSP00000431977.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 87,
"cds_start": 109,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526799.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000526516.5",
"protein_id": "ENSP00000433538.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 76,
"cds_start": 109,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526516.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000532802.5",
"protein_id": "ENSP00000435267.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 73,
"cds_start": 109,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532802.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000530995.5",
"protein_id": "ENSP00000431322.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 60,
"cds_start": 109,
"cds_end": null,
"cds_length": 184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530995.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.2059G>A",
"hgvs_p": "p.Val687Ile",
"transcript": "XM_011544706.3",
"protein_id": "XP_011543008.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 737,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544706.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "XM_011544707.3",
"protein_id": "XP_011543009.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 692,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544707.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "XM_047426169.1",
"protein_id": "XP_047282125.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 692,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426169.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.1909G>A",
"hgvs_p": "p.Val637Ile",
"transcript": "XM_011544708.3",
"protein_id": "XP_011543010.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 687,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544708.3"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.258-176G>A",
"hgvs_p": null,
"transcript": "ENST00000533753.5",
"protein_id": "ENSP00000434225.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533753.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "n.*294+396G>A",
"hgvs_p": null,
"transcript": "ENST00000532450.5",
"protein_id": "ENSP00000435917.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532450.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.*392G>A",
"hgvs_p": null,
"transcript": "ENST00000528884.5",
"protein_id": "ENSP00000431513.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 26,
"cds_start": null,
"cds_end": null,
"cds_length": 81,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528884.5"
},
{
"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": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "n.*48G>A",
"hgvs_p": null,
"transcript": "ENST00000531746.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531746.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.*4G>A",
"hgvs_p": null,
"transcript": "ENST00000533842.5",
"protein_id": "ENSP00000435549.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": null,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533842.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "c.*28G>A",
"hgvs_p": null,
"transcript": "ENST00000533340.5",
"protein_id": "ENSP00000433892.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 26,
"cds_start": null,
"cds_end": null,
"cds_length": 81,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533340.5"
},
{
"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": "NAALADL1",
"gene_hgnc_id": 23536,
"hgvs_c": "n.*22G>A",
"hgvs_p": null,
"transcript": "ENST00000534568.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534568.1"
}
],
"gene_symbol": "NAALADL1",
"gene_hgnc_id": 23536,
"dbsnp": "rs201373743",
"frequency_reference_population": 0.00005086754,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000411026,
"gnomad_genomes_af": 0.000144482,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04766520857810974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.0872,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.288,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005468.3",
"gene_symbol": "NAALADL1",
"hgnc_id": 23536,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Ile"
}
],
"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
}