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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: 2-159798186-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159798186&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159798186,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014880.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "NM_014880.5",
"protein_id": "NP_055695.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 232,
"cds_start": 13,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259053.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014880.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000259053.6",
"protein_id": "ENSP00000259053.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 232,
"cds_start": 13,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014880.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259053.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LY75-CD302",
"gene_hgnc_id": 38828,
"hgvs_c": "c.4990+8787G>A",
"hgvs_p": null,
"transcript": "ENST00000504764.5",
"protein_id": "ENSP00000423463.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504764.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000966883.1",
"protein_id": "ENSP00000636942.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 251,
"cds_start": 13,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966883.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000856856.1",
"protein_id": "ENSP00000526915.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 223,
"cds_start": 13,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856856.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000856855.1",
"protein_id": "ENSP00000526914.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 211,
"cds_start": 13,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856855.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000966882.1",
"protein_id": "ENSP00000636941.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 202,
"cds_start": 13,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966882.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "NM_001198764.2",
"protein_id": "NP_001185693.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 195,
"cds_start": 13,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198764.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000553424.5",
"protein_id": "ENSP00000451446.2",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 195,
"cds_start": 13,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553424.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000856861.1",
"protein_id": "ENSP00000526920.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 195,
"cds_start": 13,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856861.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000856859.1",
"protein_id": "ENSP00000526918.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 186,
"cds_start": 13,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856859.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "NM_001198763.2",
"protein_id": "NP_001185692.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 174,
"cds_start": 13,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198763.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000429078.6",
"protein_id": "ENSP00000394301.2",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 174,
"cds_start": 13,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429078.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000856858.1",
"protein_id": "ENSP00000526917.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 174,
"cds_start": 13,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856858.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000856860.1",
"protein_id": "ENSP00000526919.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 157,
"cds_start": 13,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856860.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "ENST00000856857.1",
"protein_id": "ENSP00000526916.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 137,
"cds_start": 13,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856857.1"
},
{
"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": 39,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LY75-CD302",
"gene_hgnc_id": 38828,
"hgvs_c": "c.4990+8787G>A",
"hgvs_p": null,
"transcript": "NM_001198759.1",
"protein_id": "NP_001185688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198759.1"
},
{
"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": 38,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LY75-CD302",
"gene_hgnc_id": 38828,
"hgvs_c": "c.4822+10263G>A",
"hgvs_p": null,
"transcript": "NM_001198760.1",
"protein_id": "NP_001185689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1817,
"cds_start": null,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198760.1"
},
{
"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": 38,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LY75-CD302",
"gene_hgnc_id": 38828,
"hgvs_c": "c.4822+10263G>A",
"hgvs_p": null,
"transcript": "ENST00000505052.1",
"protein_id": "ENSP00000421035.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1817,
"cds_start": null,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505052.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"hgvs_c": "n.57G>A",
"hgvs_p": null,
"transcript": "ENST00000480212.1",
"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": "pseudogene",
"feature": "ENST00000480212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124906083",
"gene_hgnc_id": null,
"hgvs_c": "n.2763+234C>T",
"hgvs_p": null,
"transcript": "XR_007087273.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007087273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287091",
"gene_hgnc_id": null,
"hgvs_c": "n.-143G>A",
"hgvs_p": null,
"transcript": "ENST00000664982.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000664982.1"
}
],
"gene_symbol": "CD302",
"gene_hgnc_id": 30843,
"dbsnp": "rs374135673",
"frequency_reference_population": 0.000025883408,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000204812,
"gnomad_genomes_af": 0.0000734107,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004233360290527344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.2961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.787,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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_014880.5",
"gene_symbol": "CD302",
"hgnc_id": 30843,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001198759.1",
"gene_symbol": "LY75-CD302",
"hgnc_id": 38828,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4990+8787G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007087273.1",
"gene_symbol": "LOC124906083",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2763+234C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000664982.1",
"gene_symbol": "ENSG00000287091",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-143G>A",
"hgvs_p": null
}
],
"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
}