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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: 7-107923971-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107923971&ref=C&alt=A&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": "LAMB1",
"hgnc_id": 6486,
"hgvs_c": "c.5341G>T",
"hgvs_p": "p.Val1781Leu",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002291.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DLD",
"hgnc_id": 2898,
"hgvs_c": "n.*124+4588C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000417551.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1315,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10890331864356995,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "V",
"aa_start": 1781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 5478,
"cds_end": null,
"cds_length": 5361,
"cds_start": 5341,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_002291.3",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5341G>T",
"hgvs_p": "p.Val1781Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000222399.11",
"protein_coding": true,
"protein_id": "NP_002282.2",
"strand": false,
"transcript": "NM_002291.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "V",
"aa_start": 1781,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 5478,
"cds_end": null,
"cds_length": 5361,
"cds_start": 5341,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000222399.11",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5341G>T",
"hgvs_p": "p.Val1781Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002291.3",
"protein_coding": true,
"protein_id": "ENSP00000222399.6",
"strand": false,
"transcript": "ENST00000222399.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1810,
"aa_ref": "V",
"aa_start": 1805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5705,
"cdna_start": 5535,
"cds_end": null,
"cds_length": 5433,
"cds_start": 5413,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000943288.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5413G>T",
"hgvs_p": "p.Val1805Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613347.1",
"strand": false,
"transcript": "ENST00000943288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "V",
"aa_start": 1781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5986,
"cdna_start": 5814,
"cds_end": null,
"cds_length": 5361,
"cds_start": 5341,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000852248.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5341G>T",
"hgvs_p": "p.Val1781Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522307.1",
"strand": false,
"transcript": "ENST00000852248.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "V",
"aa_start": 1781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5842,
"cdna_start": 5586,
"cds_end": null,
"cds_length": 5361,
"cds_start": 5341,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000943287.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5341G>T",
"hgvs_p": "p.Val1781Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613346.1",
"strand": false,
"transcript": "ENST00000943287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1775,
"aa_ref": "V",
"aa_start": 1770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5659,
"cdna_start": 5487,
"cds_end": null,
"cds_length": 5328,
"cds_start": 5308,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000916408.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5308G>T",
"hgvs_p": "p.Val1770Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586467.1",
"strand": false,
"transcript": "ENST00000916408.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "V",
"aa_start": 1713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5512,
"cdna_start": 5341,
"cds_end": null,
"cds_length": 5157,
"cds_start": 5137,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000916407.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5137G>T",
"hgvs_p": "p.Val1713Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586466.1",
"strand": false,
"transcript": "ENST00000916407.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1682,
"aa_ref": "V",
"aa_start": 1677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 5218,
"cds_end": null,
"cds_length": 5049,
"cds_start": 5029,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000677793.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.5029G>T",
"hgvs_p": "p.Val1677Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504020.1",
"strand": false,
"transcript": "ENST00000677793.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "V",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 5446,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000393561.6",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.4930G>T",
"hgvs_p": "p.Val1644Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377191.2",
"strand": false,
"transcript": "ENST00000393561.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000468518.2",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.3575G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468518.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000468999.2",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.3489G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468999.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000472714.2",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.812G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000472714.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000474380.2",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.2156G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000474380.2",
"transcript_support_level": 5
},
{
"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": 5818,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000676574.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.*1257G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503081.1",
"strand": false,
"transcript": "ENST00000676574.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676744.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.1187G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000676744.1",
"transcript_support_level": null
},
{
"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": 5556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000677101.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.*4977G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503156.1",
"strand": false,
"transcript": "ENST00000677101.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5470,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000677144.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.*2160G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503049.1",
"strand": false,
"transcript": "ENST00000677144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000677485.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.6565G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000677485.1",
"transcript_support_level": null
},
{
"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": 5332,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000677588.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.*1572G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502938.1",
"strand": false,
"transcript": "ENST00000677588.1",
"transcript_support_level": null
},
{
"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": 5699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000677801.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.*1170G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503438.1",
"strand": false,
"transcript": "ENST00000677801.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": null,
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