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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: 6-129502696-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=129502696&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 129502696,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000421865.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.8282T>C",
"hgvs_p": "p.Ile2761Thr",
"transcript": "NM_000426.4",
"protein_id": "NP_000417.3",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3122,
"cds_start": 8282,
"cds_end": null,
"cds_length": 9369,
"cdna_start": 8390,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": "ENST00000421865.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.8282T>C",
"hgvs_p": "p.Ile2761Thr",
"transcript": "ENST00000421865.3",
"protein_id": "ENSP00000400365.2",
"transcript_support_level": 5,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3122,
"cds_start": 8282,
"cds_end": null,
"cds_length": 9369,
"cdna_start": 8390,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": "NM_000426.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.8546T>C",
"hgvs_p": "p.Ile2849Thr",
"transcript": "ENST00000618192.5",
"protein_id": "ENSP00000480802.2",
"transcript_support_level": 5,
"aa_start": 2849,
"aa_end": null,
"aa_length": 3210,
"cds_start": 8546,
"cds_end": null,
"cds_length": 9633,
"cdna_start": 8654,
"cdna_end": null,
"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.8270T>C",
"hgvs_p": "p.Ile2757Thr",
"transcript": "NM_001079823.2",
"protein_id": "NP_001073291.2",
"transcript_support_level": null,
"aa_start": 2757,
"aa_end": null,
"aa_length": 3118,
"cds_start": 8270,
"cds_end": null,
"cds_length": 9357,
"cdna_start": 8378,
"cdna_end": null,
"cdna_length": 9684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.8270T>C",
"hgvs_p": "p.Ile2757Thr",
"transcript": "ENST00000617695.5",
"protein_id": "ENSP00000481744.2",
"transcript_support_level": 5,
"aa_start": 2757,
"aa_end": null,
"aa_length": 3118,
"cds_start": 8270,
"cds_end": null,
"cds_length": 9357,
"cdna_start": 8378,
"cdna_end": null,
"cdna_length": 9656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000494137.2",
"protein_id": "ENSP00000510626.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 477,
"cds_start": 347,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000498257.6",
"protein_id": "ENSP00000510533.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 477,
"cds_start": 347,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000688799.1",
"protein_id": "ENSP00000508458.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 477,
"cds_start": 347,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226149",
"gene_hgnc_id": null,
"hgvs_c": "n.902A>G",
"hgvs_p": null,
"transcript": "ENST00000657779.1",
"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": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226149",
"gene_hgnc_id": null,
"hgvs_c": "n.1206A>G",
"hgvs_p": null,
"transcript": "ENST00000659721.1",
"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": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226149",
"gene_hgnc_id": null,
"hgvs_c": "n.1195A>G",
"hgvs_p": null,
"transcript": "ENST00000664071.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1445,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226149",
"gene_hgnc_id": null,
"hgvs_c": "n.884A>G",
"hgvs_p": null,
"transcript": "ENST00000665046.1",
"protein_id": null,
"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": 2743,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226149",
"gene_hgnc_id": null,
"hgvs_c": "n.1201A>G",
"hgvs_p": null,
"transcript": "ENST00000668058.1",
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "n.1260T>C",
"hgvs_p": null,
"transcript": "ENST00000688198.1",
"protein_id": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "n.1276T>C",
"hgvs_p": null,
"transcript": "ENST00000690858.1",
"protein_id": null,
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"aa_start": null,
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"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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "n.619T>C",
"hgvs_p": null,
"transcript": "ENST00000693461.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ENSG00000226149",
"gene_hgnc_id": null,
"hgvs_c": "n.566A>G",
"hgvs_p": null,
"transcript": "ENST00000810118.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226149",
"gene_hgnc_id": null,
"hgvs_c": "n.668A>G",
"hgvs_p": null,
"transcript": "ENST00000810120.1",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC102723409",
"gene_hgnc_id": null,
"hgvs_c": "n.14919A>G",
"hgvs_p": null,
"transcript": "XR_001743859.2",
"protein_id": null,
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "LOC102723409",
"gene_hgnc_id": null,
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},
{
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"protein_coding": false,
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"consequences": [
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],
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "LOC102723409",
"gene_hgnc_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC102723409",
"gene_hgnc_id": null,
"hgvs_c": "n.6669A>G",
"hgvs_p": null,
"transcript": "XR_007059755.1",
"protein_id": null,
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"cds_start": -4,
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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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC102723409",
"gene_hgnc_id": null,
"hgvs_c": "n.6669A>G",
"hgvs_p": null,
"transcript": "XR_007059756.1",
"protein_id": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
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"BP6"
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"verdict": "Likely_benign",
"transcript": "ENST00000421865.3",
"gene_symbol": "LAMA2",
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"effects": [
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"hgvs_p": "p.Ile2761Thr"
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{
"score": -5,
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"BP6"
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"verdict": "Likely_benign",
"transcript": "ENST00000657779.1",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "n.902A>G",
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},
{
"score": -5,
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "XR_001743859.2",
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"hgvs_c": "n.14919A>G",
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],
"clinvar_disease": "Congenital muscular dystrophy due to partial LAMA2 deficiency,LAMA2-related disorder,LAMA2-related muscular dystrophy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not provided|LAMA2-related muscular dystrophy|Congenital muscular dystrophy due to partial LAMA2 deficiency|LAMA2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}