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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: 10-69162473-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69162473&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69162473,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004896.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "NM_004896.5",
"protein_id": "NP_004887.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 327,
"cds_start": 619,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263559.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004896.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000263559.11",
"protein_id": "ENSP00000263559.6",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 327,
"cds_start": 619,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004896.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263559.11"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Met217Val",
"transcript": "ENST00000949228.1",
"protein_id": "ENSP00000619287.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 337,
"cds_start": 649,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949228.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000858435.1",
"protein_id": "ENSP00000528494.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 333,
"cds_start": 619,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858435.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000373382.5",
"protein_id": "ENSP00000362480.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 327,
"cds_start": 619,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373382.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000940626.1",
"protein_id": "ENSP00000610685.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 326,
"cds_start": 619,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940626.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.598A>G",
"hgvs_p": "p.Met200Val",
"transcript": "NM_001318944.2",
"protein_id": "NP_001305873.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 320,
"cds_start": 598,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318944.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000940629.1",
"protein_id": "ENSP00000610688.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 316,
"cds_start": 619,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940629.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.574A>G",
"hgvs_p": "p.Met192Val",
"transcript": "ENST00000858432.1",
"protein_id": "ENSP00000528491.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 312,
"cds_start": 574,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858432.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Met190Val",
"transcript": "NM_001318945.2",
"protein_id": "NP_001305874.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 310,
"cds_start": 568,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318945.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000940628.1",
"protein_id": "ENSP00000610687.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 306,
"cds_start": 619,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940628.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000858433.1",
"protein_id": "ENSP00000528492.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 304,
"cds_start": 619,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858433.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000858434.1",
"protein_id": "ENSP00000528493.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 293,
"cds_start": 619,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858434.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "NM_001035260.3",
"protein_id": "NP_001030337.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 251,
"cds_start": 619,
"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": "NM_001035260.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val",
"transcript": "ENST00000395098.5",
"protein_id": "ENSP00000378532.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 251,
"cds_start": 619,
"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": "ENST00000395098.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Met182Val",
"transcript": "ENST00000489794.1",
"protein_id": "ENSP00000474611.1",
"transcript_support_level": 3,
"aa_start": 182,
"aa_end": null,
"aa_length": 226,
"cds_start": 544,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489794.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Met105Val",
"transcript": "ENST00000940627.1",
"protein_id": "ENSP00000610686.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 225,
"cds_start": 313,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940627.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Met96Val",
"transcript": "NM_001318946.2",
"protein_id": "NP_001305875.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 216,
"cds_start": 286,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.418A>G",
"hgvs_p": null,
"transcript": "ENST00000467852.1",
"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": "ENST00000467852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.*351A>G",
"hgvs_p": null,
"transcript": "ENST00000489656.5",
"protein_id": "ENSP00000473746.1",
"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": "ENST00000489656.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.444A>G",
"hgvs_p": null,
"transcript": "ENST00000490696.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000490696.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.*351A>G",
"hgvs_p": null,
"transcript": "ENST00000489656.5",
"protein_id": "ENSP00000473746.1",
"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": "ENST00000489656.5"
}
],
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"dbsnp": "rs1241932737",
"frequency_reference_population": 0.000001406442,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140644,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7928605675697327,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.893,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.268,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004896.5",
"gene_symbol": "VPS26A",
"hgnc_id": 12711,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Met207Val"
}
],
"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
}