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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-101657246-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101657246&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARMCX2",
"hgnc_id": 16869,
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_014782.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.0831,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "X",
"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": 0.04496300220489502,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_177949.4",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356824.9",
"protein_coding": true,
"protein_id": "NP_808818.1",
"strand": false,
"transcript": "NM_177949.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000356824.9",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_177949.4",
"protein_coding": true,
"protein_id": "ENSP00000349281.4",
"strand": false,
"transcript": "ENST00000356824.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000328766.9",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331662.5",
"strand": false,
"transcript": "ENST00000328766.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000330154.6",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328631.2",
"strand": false,
"transcript": "ENST00000330154.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282231.2",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269160.1",
"strand": false,
"transcript": "NM_001282231.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014782.7",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055597.1",
"strand": false,
"transcript": "NM_014782.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889669.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559728.1",
"strand": false,
"transcript": "ENST00000889669.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889670.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559729.1",
"strand": false,
"transcript": "ENST00000889670.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889671.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559730.1",
"strand": false,
"transcript": "ENST00000889671.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889672.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559731.1",
"strand": false,
"transcript": "ENST00000889672.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889673.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559732.1",
"strand": false,
"transcript": "ENST00000889673.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889674.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559733.1",
"strand": false,
"transcript": "ENST00000889674.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 632,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889675.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559734.1",
"strand": false,
"transcript": "ENST00000889675.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889676.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559735.1",
"strand": false,
"transcript": "ENST00000889676.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 843,
"cds_end": null,
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"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889677.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559736.1",
"strand": false,
"transcript": "ENST00000889677.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889678.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559737.1",
"strand": false,
"transcript": "ENST00000889678.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 632,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
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],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889679.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559738.1",
"strand": false,
"transcript": "ENST00000889679.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 909,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889680.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559739.1",
"strand": false,
"transcript": "ENST00000889680.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889681.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559740.1",
"strand": false,
"transcript": "ENST00000889681.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889682.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559741.1",
"strand": false,
"transcript": "ENST00000889682.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1899,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889683.1",
"gene_hgnc_id": 16869,
"gene_symbol": "ARMCX2",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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