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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: 3-40182341-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=40182341&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 40182341,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015460.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "NM_015460.4",
"protein_id": "NP_056275.2",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302541.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015460.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "ENST00000302541.11",
"protein_id": "ENSP00000301972.6",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302541.11"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "ENST00000444716.5",
"protein_id": "ENSP00000398665.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444716.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Ser243Thr",
"transcript": "ENST00000396217.7",
"protein_id": "ENSP00000379519.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 770,
"cds_start": 728,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396217.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.995G>C",
"hgvs_p": null,
"transcript": "ENST00000458292.5",
"protein_id": "ENSP00000413392.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000458292.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.*510G>C",
"hgvs_p": null,
"transcript": "ENST00000458441.5",
"protein_id": "ENSP00000400916.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000458441.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.*510G>C",
"hgvs_p": null,
"transcript": "ENST00000458441.5",
"protein_id": "ENSP00000400916.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000458441.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD3-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.381-7619C>G",
"hgvs_p": null,
"transcript": "ENST00000625390.2",
"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": "pseudogene",
"feature": "ENST00000625390.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "NM_001284423.2",
"protein_id": "NP_001271352.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284423.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "ENST00000866103.1",
"protein_id": "ENSP00000536162.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866103.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "ENST00000866104.1",
"protein_id": "ENSP00000536163.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866104.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "ENST00000966124.1",
"protein_id": "ENSP00000636183.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966124.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "ENST00000966123.1",
"protein_id": "ENSP00000636182.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 858,
"cds_start": 995,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966123.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "NM_001284424.2",
"protein_id": "NP_001271353.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 794,
"cds_start": 995,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284424.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "ENST00000425621.5",
"protein_id": "ENSP00000389323.1",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 794,
"cds_start": 995,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425621.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Ser243Thr",
"transcript": "NM_001284425.2",
"protein_id": "NP_001271354.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 770,
"cds_start": 728,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284425.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.434G>C",
"hgvs_p": "p.Ser145Thr",
"transcript": "NM_001284426.2",
"protein_id": "NP_001271355.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 672,
"cds_start": 434,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284426.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.434G>C",
"hgvs_p": "p.Ser145Thr",
"transcript": "ENST00000539167.2",
"protein_id": "ENSP00000438297.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 672,
"cds_start": 434,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539167.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"transcript": "XM_011533575.2",
"protein_id": "XP_011531877.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 859,
"cds_start": 995,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533575.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.769G>C",
"hgvs_p": null,
"transcript": "ENST00000459828.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000459828.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.1333G>C",
"hgvs_p": null,
"transcript": "NR_104316.2",
"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": "NR_104316.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD3-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.832-64605C>G",
"hgvs_p": null,
"transcript": "ENST00000626073.2",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000626073.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18005868792533875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.19,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015460.4",
"gene_symbol": "MYRIP",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr"
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625390.2",
"gene_symbol": "ENTPD3-AS1",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.381-7619C>G",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_033965.1",
"gene_symbol": "EIF1B-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.537-7619C>G",
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}
],
"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
}