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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: 18-23901269-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23901269&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LAMA3",
"hgnc_id": 6483,
"hgvs_c": "c.6147C>G",
"hgvs_p": "p.Ala2049Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_198129.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 413329,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "18",
"clinvar_classification": "Benign",
"clinvar_disease": " non-Herlitz type,Junctional epidermolysis bullosa,Junctional epidermolysis bullosa gravis of Herlitz,Laryngo-onycho-cutaneous syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:10",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3333,
"aa_ref": "A",
"aa_start": 2049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10651,
"cdna_start": 6378,
"cds_end": null,
"cds_length": 10002,
"cds_start": 6147,
"consequences": [
"synonymous_variant"
],
"exon_count": 75,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_198129.4",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6147C>G",
"hgvs_p": "p.Ala2049Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313654.14",
"protein_coding": true,
"protein_id": "NP_937762.2",
"strand": true,
"transcript": "NM_198129.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3333,
"aa_ref": "A",
"aa_start": 2049,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10651,
"cdna_start": 6378,
"cds_end": null,
"cds_length": 10002,
"cds_start": 6147,
"consequences": [
"synonymous_variant"
],
"exon_count": 75,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000313654.14",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6147C>G",
"hgvs_p": "p.Ala2049Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198129.4",
"protein_coding": true,
"protein_id": "ENSP00000324532.8",
"strand": true,
"transcript": "ENST00000313654.14",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "A",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 5175,
"cds_start": 1320,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000227.6",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Ala440Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000269217.11",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000218.3",
"strand": true,
"transcript": "NM_000227.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "A",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 5175,
"cds_start": 1320,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000269217.11",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Ala440Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_000227.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000269217.5",
"strand": true,
"transcript": "ENST00000269217.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3277,
"aa_ref": "A",
"aa_start": 1993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9834,
"cdna_start": 5979,
"cds_end": null,
"cds_length": 9834,
"cds_start": 5979,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399516.7",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.5979C>G",
"hgvs_p": "p.Ala1993Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382432.2",
"strand": true,
"transcript": "ENST00000399516.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1668,
"aa_ref": "A",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 5007,
"cds_start": 1152,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000587184.5",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.1152C>G",
"hgvs_p": "p.Ala384Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466557.1",
"strand": true,
"transcript": "ENST00000587184.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "A",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 925,
"cds_end": null,
"cds_length": 3441,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000586751.5",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.924C>G",
"hgvs_p": "p.Ala308Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464836.1",
"strand": true,
"transcript": "ENST00000586751.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000588770.5",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "n.725C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588770.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3277,
"aa_ref": "A",
"aa_start": 1993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10483,
"cdna_start": 6210,
"cds_end": null,
"cds_length": 9834,
"cds_start": 5979,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001127717.4",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.5979C>G",
"hgvs_p": "p.Ala1993Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121189.2",
"strand": true,
"transcript": "NM_001127717.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2198,
"aa_ref": "A",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8171,
"cdna_start": 3039,
"cds_end": null,
"cds_length": 6597,
"cds_start": 3039,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000649721.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.3039C>G",
"hgvs_p": "p.Ala1013Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497885.1",
"strand": true,
"transcript": "ENST00000649721.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1668,
"aa_ref": "A",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5450,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 5007,
"cds_start": 1152,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001127718.4",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.1152C>G",
"hgvs_p": "p.Ala384Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121190.2",
"strand": true,
"transcript": "NM_001127718.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3342,
"aa_ref": "A",
"aa_start": 2058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10678,
"cdna_start": 6405,
"cds_end": null,
"cds_length": 10029,
"cds_start": 6174,
"consequences": [
"synonymous_variant"
],
"exon_count": 75,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011525978.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6174C>G",
"hgvs_p": "p.Ala2058Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524280.1",
"strand": true,
"transcript": "XM_011525978.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3339,
"aa_ref": "A",
"aa_start": 2055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 6396,
"cds_end": null,
"cds_length": 10020,
"cds_start": 6165,
"consequences": [
"synonymous_variant"
],
"exon_count": 75,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011525979.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6165C>G",
"hgvs_p": "p.Ala2055Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524281.1",
"strand": true,
"transcript": "XM_011525979.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3336,
"aa_ref": "A",
"aa_start": 2052,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10660,
"cdna_start": 6387,
"cds_end": null,
"cds_length": 10011,
"cds_start": 6156,
"consequences": [
"synonymous_variant"
],
"exon_count": 75,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011525980.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6156C>G",
"hgvs_p": "p.Ala2052Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524282.1",
"strand": true,
"transcript": "XM_011525980.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3298,
"aa_ref": "A",
"aa_start": 2014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10546,
"cdna_start": 6273,
"cds_end": null,
"cds_length": 9897,
"cds_start": 6042,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_011525981.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6042C>G",
"hgvs_p": "p.Ala2014Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524283.1",
"strand": true,
"transcript": "XM_011525981.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3295,
"aa_ref": "A",
"aa_start": 2011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10537,
"cdna_start": 6264,
"cds_end": null,
"cds_length": 9888,
"cds_start": 6033,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047437503.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6033C>G",
"hgvs_p": "p.Ala2011Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293459.1",
"strand": true,
"transcript": "XM_047437503.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3289,
"aa_ref": "A",
"aa_start": 2005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10519,
"cdna_start": 6246,
"cds_end": null,
"cds_length": 9870,
"cds_start": 6015,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047437504.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6015C>G",
"hgvs_p": "p.Ala2005Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293460.1",
"strand": true,
"transcript": "XM_047437504.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3259,
"aa_ref": "A",
"aa_start": 2058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10091,
"cdna_start": 6405,
"cds_end": null,
"cds_length": 9780,
"cds_start": 6174,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047437505.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6174C>G",
"hgvs_p": "p.Ala2058Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293461.1",
"strand": true,
"transcript": "XM_047437505.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3243,
"aa_ref": "A",
"aa_start": 2058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10381,
"cdna_start": 6405,
"cds_end": null,
"cds_length": 9732,
"cds_start": 6174,
"consequences": [
"synonymous_variant"
],
"exon_count": 73,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011525982.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6174C>G",
"hgvs_p": "p.Ala2058Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524284.1",
"strand": true,
"transcript": "XM_011525982.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3234,
"aa_ref": "A",
"aa_start": 2049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10354,
"cdna_start": 6378,
"cds_end": null,
"cds_length": 9705,
"cds_start": 6147,
"consequences": [
"synonymous_variant"
],
"exon_count": 73,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047437506.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.6147C>G",
"hgvs_p": "p.Ala2049Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293462.1",
"strand": true,
"transcript": "XM_047437506.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2626,
"aa_ref": "A",
"aa_start": 1342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8372,
"cdna_start": 4099,
"cds_end": null,
"cds_length": 7881,
"cds_start": 4026,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
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]
}