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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: 6-129507558-CCC-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=129507558&ref=CCC&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LAMA2",
"hgnc_id": 6482,
"hgvs_c": "c.8773_8775delCCCinsTTA",
"hgvs_p": "p.Pro2925Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000426.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000226149",
"hgnc_id": null,
"hgvs_c": "n.807-4769_807-4767delGGGinsTAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000657779.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102723409",
"hgnc_id": null,
"hgvs_c": "n.14824-4769_14824-4767delGGGinsTAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "XR_001743859.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3122,
"aa_ref": "P",
"aa_start": 2925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9696,
"cdna_start": 8881,
"cds_end": null,
"cds_length": 9369,
"cds_start": 8773,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000426.4",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.8773_8775delCCCinsTTA",
"hgvs_p": "p.Pro2925Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000421865.3",
"protein_coding": true,
"protein_id": "NP_000417.3",
"strand": true,
"transcript": "NM_000426.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3122,
"aa_ref": "P",
"aa_start": 2925,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9696,
"cdna_start": 8881,
"cds_end": null,
"cds_length": 9369,
"cds_start": 8773,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421865.3",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.8773_8775delCCCinsTTA",
"hgvs_p": "p.Pro2925Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000426.4",
"protein_coding": true,
"protein_id": "ENSP00000400365.2",
"strand": true,
"transcript": "ENST00000421865.3",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3210,
"aa_ref": "P",
"aa_start": 3013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9960,
"cdna_start": 9145,
"cds_end": null,
"cds_length": 9633,
"cds_start": 9037,
"consequences": [
"missense_variant"
],
"exon_count": 66,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618192.5",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.9037_9039delCCCinsTTA",
"hgvs_p": "p.Pro3013Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480802.2",
"strand": true,
"transcript": "ENST00000618192.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3118,
"aa_ref": "P",
"aa_start": 2921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9684,
"cdna_start": 8869,
"cds_end": null,
"cds_length": 9357,
"cds_start": 8761,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001079823.2",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.8761_8763delCCCinsTTA",
"hgvs_p": "p.Pro2921Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073291.2",
"strand": true,
"transcript": "NM_001079823.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3118,
"aa_ref": "P",
"aa_start": 2921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9656,
"cdna_start": 8869,
"cds_end": null,
"cds_length": 9357,
"cds_start": 8761,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617695.5",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.8761_8763delCCCinsTTA",
"hgvs_p": "p.Pro2921Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481744.2",
"strand": true,
"transcript": "ENST00000617695.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1434,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494137.2",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.838_840delCCCinsTTA",
"hgvs_p": "p.Pro280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510626.1",
"strand": true,
"transcript": "ENST00000494137.2",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1434,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498257.6",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.838_840delCCCinsTTA",
"hgvs_p": "p.Pro280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510533.1",
"strand": true,
"transcript": "ENST00000498257.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1434,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688799.1",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "c.838_840delCCCinsTTA",
"hgvs_p": "p.Pro280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508458.1",
"strand": true,
"transcript": "ENST00000688799.1",
"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": 2528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000688198.1",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "n.1751_1753delCCCinsTTA",
"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": "ENST00000688198.1",
"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": 4443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000690858.1",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "n.1767_1769delCCCinsTTA",
"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": "ENST00000690858.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000693461.1",
"gene_hgnc_id": 6482,
"gene_symbol": "LAMA2",
"hgvs_c": "n.1110_1112delCCCinsTTA",
"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": "ENST00000693461.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000657779.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226149",
"hgvs_c": "n.807-4769_807-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000657779.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000659721.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226149",
"hgvs_c": "n.1111-4769_1111-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000659721.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000664071.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226149",
"hgvs_c": "n.1100-4769_1100-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000664071.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000665046.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226149",
"hgvs_c": "n.789-4769_789-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000665046.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000668058.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226149",
"hgvs_c": "n.1106-4769_1106-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000668058.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000810118.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226149",
"hgvs_c": "n.471-4769_471-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000810118.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000810120.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226149",
"hgvs_c": "n.573-4769_573-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000810120.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 15087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001743859.2",
"gene_hgnc_id": null,
"gene_symbol": "LOC102723409",
"hgvs_c": "n.14824-4769_14824-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001743859.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 14100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001743860.2",
"gene_hgnc_id": null,
"gene_symbol": "LOC102723409",
"hgvs_c": "n.12103-4769_12103-4767delGGGinsTAA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001743860.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
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