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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-103676844-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=103676844&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 103676844,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012286.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_012286.3",
"protein_id": "NP_036418.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": "ENST00000441076.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012286.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "ENST00000441076.7",
"protein_id": "ENSP00000391969.2",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": "NM_012286.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441076.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142418.2",
"protein_id": "NP_001135890.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142418.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142419.2",
"protein_id": "NP_001135891.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142419.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142420.2",
"protein_id": "NP_001135892.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142420.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142421.2",
"protein_id": "NP_001135893.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142421.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142422.2",
"protein_id": "NP_001135894.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142422.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142423.2",
"protein_id": "NP_001135895.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142423.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142424.2",
"protein_id": "NP_001135896.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142424.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142425.2",
"protein_id": "NP_001135897.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142425.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142426.2",
"protein_id": "NP_001135898.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142426.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142427.2",
"protein_id": "NP_001135899.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142427.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142428.2",
"protein_id": "NP_001135900.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142428.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142429.2",
"protein_id": "NP_001135901.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142429.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142430.2",
"protein_id": "NP_001135902.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142430.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142431.2",
"protein_id": "NP_001135903.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142431.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "NM_001142432.2",
"protein_id": "NP_001135904.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142432.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "ENST00000360458.5",
"protein_id": "ENSP00000353643.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360458.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "ENST00000433176.6",
"protein_id": "ENSP00000415476.2",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433176.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "ENST00000451301.5",
"protein_id": "ENSP00000410532.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451301.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "ENST00000908311.1",
"protein_id": "ENSP00000578370.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
"cds_end": null,
"cds_length": 867,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908311.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L2",
"gene_hgnc_id": 16849,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "ENST00000908312.1",
"protein_id": "ENSP00000578371.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 288,
"cds_start": 184,
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.38,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012286.3",
"gene_symbol": "MORF4L2",
"hgnc_id": 16849,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys"
}
],
"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
}