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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: X-111147767-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111147767&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111147767,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372007.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_002578.5",
"protein_id": "NP_002569.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 9126,
"mane_select": "ENST00000372007.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "ENST00000372007.10",
"protein_id": "ENSP00000361077.4",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 9126,
"mane_select": "NM_002578.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.415C>A",
"hgvs_p": "p.Gln139Lys",
"transcript": "ENST00000360648.8",
"protein_id": "ENSP00000353864.4",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 580,
"cds_start": 415,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.370C>A",
"hgvs_p": "p.Gln124Lys",
"transcript": "ENST00000417227.5",
"protein_id": "ENSP00000389172.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 565,
"cds_start": 370,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Gln118Lys",
"transcript": "ENST00000262836.6",
"protein_id": "ENSP00000262836.4",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 352,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "ENST00000446737.5",
"protein_id": "ENSP00000410853.1",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.415C>A",
"hgvs_p": "p.Gln139Lys",
"transcript": "NM_001128168.3",
"protein_id": "NP_001121640.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 580,
"cds_start": 415,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 9237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.415C>A",
"hgvs_p": "p.Gln139Lys",
"transcript": "ENST00000518291.6",
"protein_id": "ENSP00000428921.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 580,
"cds_start": 415,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 9234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.370C>A",
"hgvs_p": "p.Gln124Lys",
"transcript": "NM_001128172.2",
"protein_id": "NP_001121644.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 565,
"cds_start": 370,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 8639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.370C>A",
"hgvs_p": "p.Gln124Lys",
"transcript": "ENST00000519681.5",
"protein_id": "ENSP00000429113.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 565,
"cds_start": 370,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Gln118Lys",
"transcript": "NM_001128173.3",
"protein_id": "NP_001121645.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 352,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 9174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Gln118Lys",
"transcript": "NM_001324327.2",
"protein_id": "NP_001311256.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 352,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Gln118Lys",
"transcript": "NM_001324328.2",
"protein_id": "NP_001311257.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 352,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 8956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Gln118Lys",
"transcript": "NM_001324329.2",
"protein_id": "NP_001311258.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 352,
"cds_end": null,
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"cdna_start": 929,
"cdna_end": null,
"cdna_length": 9171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Gln118Lys",
"transcript": "NM_001324333.2",
"protein_id": "NP_001311262.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 352,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Gln118Lys",
"transcript": "ENST00000372010.5",
"protein_id": "ENSP00000361080.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 352,
"cds_end": null,
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"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_001128166.3",
"protein_id": "NP_001121638.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 8881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_001128167.3",
"protein_id": "NP_001121639.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 8808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_001324325.2",
"protein_id": "NP_001311254.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 717,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_001324326.2",
"protein_id": "NP_001311255.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 8911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_001324330.2",
"protein_id": "NP_001311259.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 8956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_001324331.2",
"protein_id": "NP_001311260.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 544,
"cds_start": 307,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 8978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys",
"transcript": "NM_001324332.2",
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"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6790496110916138,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.603,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372007.10",
"gene_symbol": "PAK3",
"hgnc_id": 8592,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Gln103Lys"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}