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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: 14-74296332-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74296332&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "ABCD4",
"hgnc_id": 68,
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_005050.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.3499999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 606,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": null,
"cds_end": null,
"cds_length": 1821,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005050.4",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356924.9",
"protein_coding": true,
"protein_id": "NP_005041.1",
"strand": false,
"transcript": "NM_005050.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 606,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": null,
"cds_end": null,
"cds_length": 1821,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356924.9",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005050.4",
"protein_coding": true,
"protein_id": "ENSP00000349396.4",
"strand": false,
"transcript": "ENST00000356924.9",
"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": 1003,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460308.6",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "n.*243+1G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436527.2",
"strand": false,
"transcript": "ENST00000460308.6",
"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": 966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469672.5",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "n.*163+1G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434626.1",
"strand": false,
"transcript": "ENST00000469672.5",
"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": 1842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553486.5",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "n.*243+1G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450611.1",
"strand": false,
"transcript": "ENST00000553486.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 623,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": null,
"cds_end": null,
"cds_length": 1872,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885459.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555518.1",
"strand": false,
"transcript": "ENST00000885459.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885453.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555512.1",
"strand": false,
"transcript": "ENST00000885453.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 611,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": null,
"cds_end": null,
"cds_length": 1836,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948605.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618664.1",
"strand": false,
"transcript": "ENST00000948605.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 604,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": null,
"cds_end": null,
"cds_length": 1815,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934333.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.536+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604392.1",
"strand": false,
"transcript": "ENST00000934333.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 592,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": null,
"cds_end": null,
"cds_length": 1779,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020325.3",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_064730.1",
"strand": false,
"transcript": "NM_020325.3",
"transcript_support_level": null
},
{
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"aa_length": 589,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885454.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555513.1",
"strand": false,
"transcript": "ENST00000885454.1",
"transcript_support_level": null
},
{
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"aa_length": 589,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885457.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555516.1",
"strand": false,
"transcript": "ENST00000885457.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2313,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000948607.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.496+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618666.1",
"strand": false,
"transcript": "ENST00000948607.1",
"transcript_support_level": null
},
{
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"aa_length": 584,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885452.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555511.1",
"strand": false,
"transcript": "ENST00000885452.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": null,
"cds_end": null,
"cds_length": 1749,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934327.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604386.1",
"strand": false,
"transcript": "ENST00000934327.1",
"transcript_support_level": null
},
{
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"aa_length": 572,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": null,
"cds_end": null,
"cds_length": 1719,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440752.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427681.1",
"strand": false,
"transcript": "NM_001440752.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 567,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934326.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.425+1G>A",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604385.1",
"strand": false,
"transcript": "ENST00000934326.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 2194,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934335.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.426-353G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604394.1",
"strand": false,
"transcript": "ENST00000934335.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934328.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604387.1",
"strand": false,
"transcript": "ENST00000934328.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353591.2",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
"hgvs_c": "c.542+1G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340520.1",
"strand": false,
"transcript": "NM_001353591.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885451.1",
"gene_hgnc_id": 68,
"gene_symbol": "ABCD4",
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