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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: 1-202235978-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202235978&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202235978,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001017403.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "NM_001017403.2",
"protein_id": "NP_001017403.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 967,
"cds_start": 413,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367278.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017403.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000367278.8",
"protein_id": "ENSP00000356247.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 967,
"cds_start": 413,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017403.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367278.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "ENST00000255432.11",
"protein_id": "ENSP00000255432.7",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 915,
"cds_start": 257,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255432.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Pro95Leu",
"transcript": "ENST00000439764.2",
"protein_id": "ENSP00000387869.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 828,
"cds_start": 284,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439764.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904634.1",
"protein_id": "ENSP00000574693.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 1014,
"cds_start": 413,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904634.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904651.1",
"protein_id": "ENSP00000574710.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 1004,
"cds_start": 413,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904651.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000904646.1",
"protein_id": "ENSP00000574705.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 990,
"cds_start": 341,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904646.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000956149.1",
"protein_id": "ENSP00000626208.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 990,
"cds_start": 413,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956149.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904636.1",
"protein_id": "ENSP00000574695.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 960,
"cds_start": 413,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904636.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904642.1",
"protein_id": "ENSP00000574701.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 944,
"cds_start": 413,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904642.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904633.1",
"protein_id": "ENSP00000574692.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 943,
"cds_start": 413,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904633.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000904637.1",
"protein_id": "ENSP00000574696.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 943,
"cds_start": 341,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904637.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904639.1",
"protein_id": "ENSP00000574698.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 943,
"cds_start": 413,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904639.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904650.1",
"protein_id": "ENSP00000574709.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 943,
"cds_start": 413,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904650.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904647.1",
"protein_id": "ENSP00000574706.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 942,
"cds_start": 413,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904647.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000956150.1",
"protein_id": "ENSP00000626209.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 942,
"cds_start": 341,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956150.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904652.1",
"protein_id": "ENSP00000574711.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 920,
"cds_start": 413,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904652.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000904632.1",
"protein_id": "ENSP00000574691.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 919,
"cds_start": 341,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904632.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000904640.1",
"protein_id": "ENSP00000574699.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 919,
"cds_start": 413,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904640.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000904644.1",
"protein_id": "ENSP00000574703.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 919,
"cds_start": 341,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904644.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Pro90Leu",
"transcript": "ENST00000904649.1",
"protein_id": "ENSP00000574708.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 919,
"cds_start": 269,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904649.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "ENST00000956147.1",
"protein_id": "ENSP00000626206.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 919,
"cds_start": 413,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
"score": 0,
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}