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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: 16-254559-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=254559&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM234A",
"hgnc_id": 14163,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_032039.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1403,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1829761564731598,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_032039.4",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399932.8",
"protein_coding": true,
"protein_id": "NP_114428.1",
"strand": true,
"transcript": "NM_032039.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000399932.8",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032039.4",
"protein_coding": true,
"protein_id": "ENSP00000382814.3",
"strand": true,
"transcript": "ENST00000399932.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 290,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000301678.7",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301678.3",
"strand": true,
"transcript": "ENST00000301678.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 607,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 345,
"cds_end": null,
"cds_length": 1824,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970193.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640252.1",
"strand": true,
"transcript": "ENST00000970193.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1800,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872387.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542446.1",
"strand": true,
"transcript": "ENST00000872387.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 585,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1758,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872377.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542436.1",
"strand": true,
"transcript": "ENST00000872377.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 572,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1719,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914331.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584390.1",
"strand": true,
"transcript": "ENST00000914331.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 572,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1719,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970213.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640272.1",
"strand": true,
"transcript": "ENST00000970213.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 571,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1716,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872374.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542433.1",
"strand": true,
"transcript": "ENST00000872374.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 571,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1716,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872414.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542473.1",
"strand": true,
"transcript": "ENST00000872414.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 564,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 332,
"cds_end": null,
"cds_length": 1695,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872393.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542452.1",
"strand": true,
"transcript": "ENST00000872393.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 563,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1692,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970196.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640255.1",
"strand": true,
"transcript": "ENST00000970196.1",
"transcript_support_level": null
},
{
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"aa_length": 562,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 313,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"exon_rank_end": null,
"feature": "ENST00000872391.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542450.1",
"strand": true,
"transcript": "ENST00000872391.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 562,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 358,
"cds_end": null,
"cds_length": 1689,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970198.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640257.1",
"strand": true,
"transcript": "ENST00000970198.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 345,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872367.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542426.1",
"strand": true,
"transcript": "ENST00000872367.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": 315,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001284497.2",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271426.1",
"strand": true,
"transcript": "NM_001284497.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 552,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872370.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542429.1",
"strand": true,
"transcript": "ENST00000872370.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 552,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1659,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872372.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542431.1",
"strand": true,
"transcript": "ENST00000872372.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 473,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872373.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542432.1",
"strand": true,
"transcript": "ENST00000872373.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872375.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542434.1",
"strand": true,
"transcript": "ENST00000872375.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 426,
"cds_end": null,
"cds_length": 1659,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872376.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ala49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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