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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: 9-15466784-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=15466784&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 15466784,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033222.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "NM_033222.5",
"protein_id": "NP_150091.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "ENST00000380733.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033222.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000380733.9",
"protein_id": "ENSP00000370109.4",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "NM_033222.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380733.9"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000380738.8",
"protein_id": "ENSP00000370114.4",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380738.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1532A>C",
"hgvs_p": "p.Asp511Ala",
"transcript": "ENST00000950213.1",
"protein_id": "ENSP00000620272.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 542,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950213.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "NM_001128217.3",
"protein_id": "NP_001121689.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128217.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000901729.1",
"protein_id": "ENSP00000571788.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901729.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000901731.1",
"protein_id": "ENSP00000571790.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901731.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000901732.1",
"protein_id": "ENSP00000571791.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901732.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000901733.1",
"protein_id": "ENSP00000571792.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901733.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000917556.1",
"protein_id": "ENSP00000587615.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917556.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000917558.1",
"protein_id": "ENSP00000587617.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917558.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000917559.1",
"protein_id": "ENSP00000587618.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917559.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000917561.1",
"protein_id": "ENSP00000587620.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917561.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000950211.1",
"protein_id": "ENSP00000620270.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950211.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Asp499Ala",
"transcript": "ENST00000950214.1",
"protein_id": "ENSP00000620273.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 530,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950214.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1493A>C",
"hgvs_p": "p.Asp498Ala",
"transcript": "ENST00000917560.1",
"protein_id": "ENSP00000587619.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 529,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917560.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1493A>C",
"hgvs_p": "p.Asp498Ala",
"transcript": "ENST00000950212.1",
"protein_id": "ENSP00000620271.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 529,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950212.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1448A>C",
"hgvs_p": "p.Asp483Ala",
"transcript": "ENST00000901730.1",
"protein_id": "ENSP00000571789.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 514,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901730.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1448A>C",
"hgvs_p": "p.Asp483Ala",
"transcript": "ENST00000917557.1",
"protein_id": "ENSP00000587616.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 514,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917557.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1016A>C",
"hgvs_p": "p.Asp339Ala",
"transcript": "ENST00000950215.1",
"protein_id": "ENSP00000620274.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 370,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950215.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC3",
"gene_hgnc_id": 11136,
"hgvs_c": "c.*5117T>G",
"hgvs_p": null,
"transcript": "NM_001369648.2",
"protein_id": "NP_001356577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": null,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369648.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC3",
"gene_hgnc_id": 11136,
"hgvs_c": "c.*5117T>G",
"hgvs_p": null,
"transcript": "NM_001369651.2",
"protein_id": "NP_001356580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033222.5",
"gene_symbol": "PSIP1",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001369648.2",
"gene_symbol": "SNAPC3",
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],
"inheritance_mode": "AR",
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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
}