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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: 7-107924095-G-GAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107924095&ref=G&alt=GAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107924095,
"ref": "G",
"alt": "GAT",
"effect": "intron_variant",
"transcript": "ENST00000222399.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "c.5225-9_5225-8insAT",
"hgvs_p": null,
"transcript": "NM_002291.3",
"protein_id": "NP_002282.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1786,
"cds_start": -4,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": "ENST00000222399.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "c.5225-9_5225-8insAT",
"hgvs_p": null,
"transcript": "ENST00000222399.11",
"protein_id": "ENSP00000222399.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1786,
"cds_start": -4,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": "NM_002291.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "c.4913-9_4913-8insAT",
"hgvs_p": null,
"transcript": "ENST00000677793.1",
"protein_id": "ENSP00000504020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": -4,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "c.4814-9_4814-8insAT",
"hgvs_p": null,
"transcript": "ENST00000393561.6",
"protein_id": "ENSP00000377191.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1649,
"cds_start": -4,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*124+4712_*124+4713insAT",
"hgvs_p": null,
"transcript": "ENST00000417551.5",
"protein_id": "ENSP00000390667.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.3459-9_3459-8insAT",
"hgvs_p": null,
"transcript": "ENST00000468518.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.3373-9_3373-8insAT",
"hgvs_p": null,
"transcript": "ENST00000468999.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.696-9_696-8insAT",
"hgvs_p": null,
"transcript": "ENST00000472714.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.2040-9_2040-8insAT",
"hgvs_p": null,
"transcript": "ENST00000474380.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*1141-9_*1141-8insAT",
"hgvs_p": null,
"transcript": "ENST00000676574.1",
"protein_id": "ENSP00000503081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.1071-9_1071-8insAT",
"hgvs_p": null,
"transcript": "ENST00000676744.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*4861-9_*4861-8insAT",
"hgvs_p": null,
"transcript": "ENST00000677101.1",
"protein_id": "ENSP00000503156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*2044-9_*2044-8insAT",
"hgvs_p": null,
"transcript": "ENST00000677144.1",
"protein_id": "ENSP00000503049.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.6449-9_6449-8insAT",
"hgvs_p": null,
"transcript": "ENST00000677485.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*1456-9_*1456-8insAT",
"hgvs_p": null,
"transcript": "ENST00000677588.1",
"protein_id": "ENSP00000502938.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 5332,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*1054-9_*1054-8insAT",
"hgvs_p": null,
"transcript": "ENST00000677801.1",
"protein_id": "ENSP00000503438.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.2624-9_2624-8insAT",
"hgvs_p": null,
"transcript": "ENST00000677957.1",
"protein_id": null,
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.3394-9_3394-8insAT",
"hgvs_p": null,
"transcript": "ENST00000678310.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*1297-9_*1297-8insAT",
"hgvs_p": null,
"transcript": "ENST00000678698.1",
"protein_id": "ENSP00000503198.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 33,
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"gene_symbol": "LAMB1",
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"hgvs_c": "n.*3807-9_*3807-8insAT",
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"transcript": "ENST00000678704.1",
"protein_id": "ENSP00000504589.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*1297-9_*1297-8insAT",
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"transcript": "ENST00000678892.1",
"protein_id": "ENSP00000504841.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.4121-9_4121-8insAT",
"hgvs_p": null,
"transcript": "ENST00000678984.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4409,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"hgvs_c": "n.*1297-9_*1297-8insAT",
"hgvs_p": null,
"transcript": "ENST00000679200.1",
"protein_id": "ENSP00000503498.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMB1",
"gene_hgnc_id": 6486,
"dbsnp": "rs142305198",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.083,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Very_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000222399.11",
"gene_symbol": "LAMB1",
"hgnc_id": 6486,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5225-9_5225-8insAT",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Very_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000417551.5",
"gene_symbol": "DLD",
"hgnc_id": 2898,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*124+4712_*124+4713insAT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}