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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: 18-23882044-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23882044&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23882044,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000313654.14",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5221A>G",
"hgvs_p": "p.Ser1741Gly",
"transcript": "NM_198129.4",
"protein_id": "NP_937762.2",
"transcript_support_level": null,
"aa_start": 1741,
"aa_end": null,
"aa_length": 3333,
"cds_start": 5221,
"cds_end": null,
"cds_length": 10002,
"cdna_start": 5452,
"cdna_end": null,
"cdna_length": 10651,
"mane_select": "ENST00000313654.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5221A>G",
"hgvs_p": "p.Ser1741Gly",
"transcript": "ENST00000313654.14",
"protein_id": "ENSP00000324532.8",
"transcript_support_level": 1,
"aa_start": 1741,
"aa_end": null,
"aa_length": 3333,
"cds_start": 5221,
"cds_end": null,
"cds_length": 10002,
"cdna_start": 5452,
"cdna_end": null,
"cdna_length": 10651,
"mane_select": "NM_198129.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Ser132Gly",
"transcript": "NM_000227.6",
"protein_id": "NP_000218.3",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1724,
"cds_start": 394,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": "ENST00000269217.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Ser132Gly",
"transcript": "ENST00000269217.11",
"protein_id": "ENSP00000269217.5",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 1724,
"cds_start": 394,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": "NM_000227.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5221A>G",
"hgvs_p": "p.Ser1741Gly",
"transcript": "ENST00000399516.7",
"protein_id": "ENSP00000382432.2",
"transcript_support_level": 1,
"aa_start": 1741,
"aa_end": null,
"aa_length": 3277,
"cds_start": 5221,
"cds_end": null,
"cds_length": 9834,
"cdna_start": 5221,
"cdna_end": null,
"cdna_length": 9834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Ser132Gly",
"transcript": "ENST00000587184.5",
"protein_id": "ENSP00000466557.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 1668,
"cds_start": 394,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5221A>G",
"hgvs_p": "p.Ser1741Gly",
"transcript": "NM_001127717.4",
"protein_id": "NP_001121189.2",
"transcript_support_level": null,
"aa_start": 1741,
"aa_end": null,
"aa_length": 3277,
"cds_start": 5221,
"cds_end": null,
"cds_length": 9834,
"cdna_start": 5452,
"cdna_end": null,
"cdna_length": 10483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Ser705Gly",
"transcript": "ENST00000649721.1",
"protein_id": "ENSP00000497885.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 2198,
"cds_start": 2113,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 8171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Ser132Gly",
"transcript": "NM_001127718.4",
"protein_id": "NP_001121190.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1668,
"cds_start": 394,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5248A>G",
"hgvs_p": "p.Ser1750Gly",
"transcript": "XM_011525978.3",
"protein_id": "XP_011524280.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 3342,
"cds_start": 5248,
"cds_end": null,
"cds_length": 10029,
"cdna_start": 5479,
"cdna_end": null,
"cdna_length": 10678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5239A>G",
"hgvs_p": "p.Ser1747Gly",
"transcript": "XM_011525979.3",
"protein_id": "XP_011524281.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 3339,
"cds_start": 5239,
"cds_end": null,
"cds_length": 10020,
"cdna_start": 5470,
"cdna_end": null,
"cdna_length": 10669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5230A>G",
"hgvs_p": "p.Ser1744Gly",
"transcript": "XM_011525980.3",
"protein_id": "XP_011524282.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 3336,
"cds_start": 5230,
"cds_end": null,
"cds_length": 10011,
"cdna_start": 5461,
"cdna_end": null,
"cdna_length": 10660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5116A>G",
"hgvs_p": "p.Ser1706Gly",
"transcript": "XM_011525981.3",
"protein_id": "XP_011524283.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 3298,
"cds_start": 5116,
"cds_end": null,
"cds_length": 9897,
"cdna_start": 5347,
"cdna_end": null,
"cdna_length": 10546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5107A>G",
"hgvs_p": "p.Ser1703Gly",
"transcript": "XM_047437503.1",
"protein_id": "XP_047293459.1",
"transcript_support_level": null,
"aa_start": 1703,
"aa_end": null,
"aa_length": 3295,
"cds_start": 5107,
"cds_end": null,
"cds_length": 9888,
"cdna_start": 5338,
"cdna_end": null,
"cdna_length": 10537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5089A>G",
"hgvs_p": "p.Ser1697Gly",
"transcript": "XM_047437504.1",
"protein_id": "XP_047293460.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 3289,
"cds_start": 5089,
"cds_end": null,
"cds_length": 9870,
"cdna_start": 5320,
"cdna_end": null,
"cdna_length": 10519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5248A>G",
"hgvs_p": "p.Ser1750Gly",
"transcript": "XM_047437505.1",
"protein_id": "XP_047293461.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 3259,
"cds_start": 5248,
"cds_end": null,
"cds_length": 9780,
"cdna_start": 5479,
"cdna_end": null,
"cdna_length": 10091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5248A>G",
"hgvs_p": "p.Ser1750Gly",
"transcript": "XM_011525982.3",
"protein_id": "XP_011524284.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 3243,
"cds_start": 5248,
"cds_end": null,
"cds_length": 9732,
"cdna_start": 5479,
"cdna_end": null,
"cdna_length": 10381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5221A>G",
"hgvs_p": "p.Ser1741Gly",
"transcript": "XM_047437506.1",
"protein_id": "XP_047293462.1",
"transcript_support_level": null,
"aa_start": 1741,
"aa_end": null,
"aa_length": 3234,
"cds_start": 5221,
"cds_end": null,
"cds_length": 9705,
"cdna_start": 5452,
"cdna_end": null,
"cdna_length": 10354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3100A>G",
"hgvs_p": "p.Ser1034Gly",
"transcript": "XM_017025743.1",
"protein_id": "XP_016881232.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 2626,
"cds_start": 3100,
"cds_end": null,
"cds_length": 7881,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 8372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Ser264Gly",
"transcript": "XM_017025744.2",
"protein_id": "XP_016881233.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1856,
"cds_start": 790,
"cds_end": null,
"cds_length": 5571,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"dbsnp": "rs1555724108",
"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": 0.4092300534248352,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9879999756813049,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.1109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.929,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.46,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.99988074138142,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000313654.14",
"gene_symbol": "LAMA3",
"hgnc_id": 6483,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5221A>G",
"hgvs_p": "p.Ser1741Gly"
}
],
"clinvar_disease": "Junctional epidermolysis bullosa gravis of Herlitz",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Junctional epidermolysis bullosa gravis of Herlitz",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}