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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: 2-85362273-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85362273&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ELMOD3",
"hgnc_id": 26158,
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_032213.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 381,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": null,
"cds_end": null,
"cds_length": 1146,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135022.2",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409013.8",
"protein_coding": true,
"protein_id": "NP_001128494.1",
"strand": true,
"transcript": "NM_001135022.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 381,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": null,
"cds_end": null,
"cds_length": 1146,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409013.8",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135022.2",
"protein_coding": true,
"protein_id": "ENSP00000387139.3",
"strand": true,
"transcript": "ENST00000409013.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 391,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": null,
"cds_end": null,
"cds_length": 1176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000315658.11",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318264.7",
"strand": true,
"transcript": "ENST00000315658.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 381,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": null,
"cds_end": null,
"cds_length": 1146,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393852.8",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377434.4",
"strand": true,
"transcript": "ENST00000393852.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000410106.5",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "n.129+13C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000387134.1",
"strand": true,
"transcript": "ENST00000410106.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414593.5",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "n.129+13C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394774.1",
"strand": true,
"transcript": "ENST00000414593.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429764.5",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "n.129+13C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408329.1",
"strand": true,
"transcript": "ENST00000429764.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444108.7",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "n.129+13C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401984.2",
"strand": true,
"transcript": "ENST00000444108.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446464.7",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "n.129+13C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407599.3",
"strand": true,
"transcript": "ENST00000446464.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 391,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": null,
"cds_end": null,
"cds_length": 1176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032213.5",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115589.2",
"strand": true,
"transcript": "NM_032213.5",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_length": 2548,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135021.2",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128493.1",
"strand": true,
"transcript": "NM_001135021.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001135023.2",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001128495.1",
"strand": true,
"transcript": "NM_001135023.2",
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},
{
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"consequences": [
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],
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"feature": "NM_001329791.2",
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"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001316720.1",
"strand": true,
"transcript": "NM_001329791.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "NM_001329792.2",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001316721.1",
"strand": true,
"transcript": "NM_001329792.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "NM_001329793.2",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001316722.1",
"strand": true,
"transcript": "NM_001329793.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000409344.7",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000386248.3",
"strand": true,
"transcript": "ENST00000409344.7",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000409890.6",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
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"protein_coding": true,
"protein_id": "ENSP00000386304.2",
"strand": true,
"transcript": "ENST00000409890.6",
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},
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],
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"feature": "ENST00000893328.1",
"gene_hgnc_id": 26158,
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"mane_plus": null,
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"protein_id": "ENSP00000563387.1",
"strand": true,
"transcript": "ENST00000893328.1",
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},
{
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000893329.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563388.1",
"strand": true,
"transcript": "ENST00000893329.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000893330.1",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563389.1",
"strand": true,
"transcript": "ENST00000893330.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893331.1",
"gene_hgnc_id": 26158,
"gene_symbol": "ELMOD3",
"hgvs_c": "c.129+13C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563390.1",
"strand": true,
"transcript": "ENST00000893331.1",
"transcript_support_level": null
},
{
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