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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: 19-56814177-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56814177&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 56814177,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001369717.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4265C>G",
"hgvs_p": "p.Ala1422Gly",
"transcript": "NM_006210.3",
"protein_id": "NP_006201.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1588,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326441.15",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006210.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4265C>G",
"hgvs_p": "p.Ala1422Gly",
"transcript": "ENST00000326441.15",
"protein_id": "ENSP00000326581.7",
"transcript_support_level": 1,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1588,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006210.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326441.15"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4265C>G",
"hgvs_p": "p.Ala1422Gly",
"transcript": "ENST00000599534.5",
"protein_id": "ENSP00000472395.1",
"transcript_support_level": 1,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599534.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4265C>G",
"hgvs_p": "p.Ala1422Gly",
"transcript": "ENST00000599577.5",
"protein_id": "ENSP00000469486.1",
"transcript_support_level": 1,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599577.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3893C>G",
"hgvs_p": "p.Ala1298Gly",
"transcript": "ENST00000598410.5",
"protein_id": "ENSP00000473190.1",
"transcript_support_level": 1,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598410.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3887C>G",
"hgvs_p": "p.Ala1296Gly",
"transcript": "ENST00000593695.5",
"protein_id": "ENSP00000472402.1",
"transcript_support_level": 1,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1462,
"cds_start": 3887,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593695.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.490+3569C>G",
"hgvs_p": null,
"transcript": "NM_001387356.1",
"protein_id": "NP_001374285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000629319.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.490+3569C>G",
"hgvs_p": null,
"transcript": "ENST00000629319.3",
"protein_id": "ENSP00000486502.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387356.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629319.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.397+4423C>G",
"hgvs_p": null,
"transcript": "ENST00000593711.6",
"protein_id": "ENSP00000472306.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593711.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.397+4423C>G",
"hgvs_p": null,
"transcript": "ENST00000601070.5",
"protein_id": "ENSP00000470326.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601070.5"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "n.490+3569C>G",
"hgvs_p": null,
"transcript": "ENST00000595671.5",
"protein_id": "ENSP00000469185.1",
"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": "ENST00000595671.5"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "n.397+4423C>G",
"hgvs_p": null,
"transcript": "ENST00000597281.5",
"protein_id": "ENSP00000471643.1",
"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": "ENST00000597281.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4271C>G",
"hgvs_p": "p.Ala1424Gly",
"transcript": "NM_001369717.1",
"protein_id": "NP_001356646.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4271,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369717.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4271C>G",
"hgvs_p": "p.Ala1424Gly",
"transcript": "NM_001369718.1",
"protein_id": "NP_001356647.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4271,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369718.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4265C>G",
"hgvs_p": "p.Ala1422Gly",
"transcript": "NM_001146184.2",
"protein_id": "NP_001139656.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1588,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146184.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.4178C>G",
"hgvs_p": "p.Ala1393Gly",
"transcript": "NM_001369719.1",
"protein_id": "NP_001356648.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1559,
"cds_start": 4178,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369719.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3893C>G",
"hgvs_p": "p.Ala1298Gly",
"transcript": "NM_001146187.2",
"protein_id": "NP_001139659.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146187.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3893C>G",
"hgvs_p": "p.Ala1298Gly",
"transcript": "NM_001369720.1",
"protein_id": "NP_001356649.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369720.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3893C>G",
"hgvs_p": "p.Ala1298Gly",
"transcript": "NM_001369721.1",
"protein_id": "NP_001356650.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369721.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3893C>G",
"hgvs_p": "p.Ala1298Gly",
"transcript": "NM_001369722.1",
"protein_id": "NP_001356651.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369722.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3893C>G",
"hgvs_p": "p.Ala1298Gly",
"transcript": "NM_001369723.1",
"protein_id": "NP_001356652.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369723.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG3",
"gene_hgnc_id": 8826,
"hgvs_c": "c.3893C>G",
"hgvs_p": "p.Ala1298Gly",
"transcript": "NM_001369724.1",
"protein_id": "NP_001356653.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"gnomad_exomes_ac": 9855,
"gnomad_genomes_ac": 564,
"gnomad_exomes_homalt": 43,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005486667156219482,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.2083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.809,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001369717.1",
"gene_symbol": "PEG3",
"hgnc_id": 8826,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4271C>G",
"hgvs_p": "p.Ala1424Gly"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001369773.1",
"gene_symbol": "ZIM2",
"hgnc_id": 12875,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.490+3569C>G",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650854.1",
"gene_symbol": "ENSG00000286125",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.861+3949G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}