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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: 7-107961589-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107961589&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LAMB1",
"hgnc_id": 6486,
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_002291.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 409,
"alphamissense_prediction": null,
"alphamissense_score": 0.0932,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010612785816192627,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 5361,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_002291.3",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 5361,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000222399.11",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 850,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000393560.5",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377190.1",
"strand": false,
"transcript": "ENST00000393560.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1810,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5705,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 5433,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000943288.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5986,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 5361,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852248.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5842,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 5361,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000943287.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 1775,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5659,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 5328,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000916408.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5512,
"cdna_start": 2149,
"cds_end": null,
"cds_length": 5157,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000916407.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 1682,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 5049,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677793.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"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": "N",
"aa_end": null,
"aa_length": 1675,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5231,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 5028,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676777.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504756.1",
"strand": false,
"transcript": "ENST00000676777.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 4950,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000393561.6",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"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": "N",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 3567,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000679244.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504656.1",
"strand": false,
"transcript": "ENST00000679244.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 1051,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 3156,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000676920.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503814.1",
"strand": false,
"transcript": "ENST00000676920.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "D",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4509,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 4200,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047420359.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276315.1",
"strand": false,
"transcript": "XM_047420359.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3717,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 3567,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047420360.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Asp649Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276316.1",
"strand": false,
"transcript": "XM_047420360.1",
"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": 5818,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676574.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.1945G>A",
"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": "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": 15,
"exon_rank_end": null,
"feature": "ENST00000677101.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.*1581G>A",
"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
},
{
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"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": 16,
"exon_rank_end": null,
"feature": "ENST00000677144.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.1945G>A",
"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,
"aa_end": null,
"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": 15,
"exon_rank_end": null,
"feature": "ENST00000677485.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.3169G>A",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000677588.1",
"gene_hgnc_id": 6486,
"gene_symbol": "LAMB1",
"hgvs_c": "n.1945G>A",
"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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
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