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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: 19-39370075-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39370075&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SAMD4B",
"hgnc_id": 25492,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_018028.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0914,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23570740222930908,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001384574.2",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000610417.5",
"protein_coding": true,
"protein_id": "NP_001371503.1",
"strand": true,
"transcript": "NM_001384574.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000610417.5",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001384574.2",
"protein_coding": true,
"protein_id": "ENSP00000484229.1",
"strand": true,
"transcript": "ENST00000610417.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000314471.10",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317224.5",
"strand": true,
"transcript": "ENST00000314471.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 692,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 957,
"cds_end": null,
"cds_length": 2079,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000598913.5",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470237.1",
"strand": true,
"transcript": "ENST00000598913.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 325,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 695,
"cds_end": null,
"cds_length": 978,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000596368.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471509.1",
"strand": true,
"transcript": "ENST00000596368.1",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001384565.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371494.1",
"strand": true,
"transcript": "NM_001384565.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001384566.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371495.1",
"strand": true,
"transcript": "NM_001384566.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001384568.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371497.1",
"strand": true,
"transcript": "NM_001384568.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3900,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001384569.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371498.1",
"strand": true,
"transcript": "NM_001384569.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4426,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001384570.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371499.1",
"strand": true,
"transcript": "NM_001384570.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001384571.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371500.1",
"strand": true,
"transcript": "NM_001384571.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3970,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001384573.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371502.1",
"strand": true,
"transcript": "NM_001384573.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001384575.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371504.1",
"strand": true,
"transcript": "NM_001384575.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3964,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001384576.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371505.1",
"strand": true,
"transcript": "NM_001384576.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 978,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001384577.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371506.1",
"strand": true,
"transcript": "NM_001384577.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001384578.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371507.1",
"strand": true,
"transcript": "NM_001384578.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4528,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_018028.4",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060498.2",
"strand": true,
"transcript": "NM_018028.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 978,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000863006.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533065.1",
"strand": true,
"transcript": "ENST00000863006.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4432,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863007.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533066.1",
"strand": true,
"transcript": "ENST00000863007.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863008.1",
"gene_hgnc_id": 25492,
"gene_symbol": "SAMD4B",
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ser206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533067.1",
"strand": true,
"transcript": "ENST00000863008.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4349,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 2085,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863009.1",
"gene_hgnc_id": 25492,
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