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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: 10-103900068-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103900068&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 103900068,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000224950.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "NM_024928.5",
"protein_id": "NP_079204.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": "ENST00000224950.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000224950.8",
"protein_id": "ENSP00000224950.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": "NM_024928.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698305.1",
"protein_id": "ENSP00000513665.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 375,
"cds_start": 451,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000369764.2",
"protein_id": "ENSP00000358779.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 7110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698241.1",
"protein_id": "ENSP00000513621.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698242.1",
"protein_id": "ENSP00000513622.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698243.1",
"protein_id": "ENSP00000513623.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698297.1",
"protein_id": "ENSP00000513657.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698298.1",
"protein_id": "ENSP00000513658.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698304.1",
"protein_id": "ENSP00000513664.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 368,
"cds_start": 451,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698328.1",
"protein_id": "ENSP00000513669.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 356,
"cds_start": 451,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698299.1",
"protein_id": "ENSP00000513659.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 351,
"cds_start": 451,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698245.1",
"protein_id": "ENSP00000513626.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 350,
"cds_start": 451,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698246.1",
"protein_id": "ENSP00000513627.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 350,
"cds_start": 451,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000698300.1",
"protein_id": "ENSP00000513660.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 341,
"cds_start": 451,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Thr119Ala",
"transcript": "ENST00000698303.1",
"protein_id": "ENSP00000513663.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 336,
"cds_start": 355,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "n.451A>G",
"hgvs_p": null,
"transcript": "ENST00000466828.6",
"protein_id": "ENSP00000513624.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "n.85A>G",
"hgvs_p": null,
"transcript": "ENST00000472951.1",
"protein_id": "ENSP00000513625.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289744",
"gene_hgnc_id": null,
"hgvs_c": "n.786A>G",
"hgvs_p": null,
"transcript": "ENST00000698239.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289744",
"gene_hgnc_id": null,
"hgvs_c": "n.901A>G",
"hgvs_p": null,
"transcript": "ENST00000698240.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "n.*288A>G",
"hgvs_p": null,
"transcript": "ENST00000698302.1",
"protein_id": "ENSP00000513662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "c.-48A>G",
"hgvs_p": null,
"transcript": "ENST00000698301.1",
"protein_id": "ENSP00000513661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": -4,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"hgvs_c": "n.*288A>G",
"hgvs_p": null,
"transcript": "ENST00000698302.1",
"protein_id": "ENSP00000513662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STN1",
"gene_hgnc_id": 26200,
"dbsnp": "rs2487999",
"frequency_reference_population": 0.90096045,
"hom_count_reference_population": 657760,
"allele_count_reference_population": 1453833,
"gnomad_exomes_af": 0.906644,
"gnomad_genomes_af": 0.846384,
"gnomad_exomes_ac": 1325010,
"gnomad_genomes_ac": 128823,
"gnomad_exomes_homalt": 602320,
"gnomad_genomes_homalt": 55440,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.809443675592775e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.54,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000224950.8",
"gene_symbol": "STN1",
"hgnc_id": 26200,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000698239.1",
"gene_symbol": "ENSG00000289744",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.786A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Cerebroretinal microangiopathy with calcifications and cysts 2,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Cerebroretinal microangiopathy with calcifications and cysts 2",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}