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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: 3-47853323-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47853323&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47853323,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001385682.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6726G>C",
"hgvs_p": "p.Leu2242Leu",
"transcript": "NM_001385682.1",
"protein_id": "NP_001372611.1",
"transcript_support_level": null,
"aa_start": 2242,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6726,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683076.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385682.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6726G>C",
"hgvs_p": "p.Leu2242Leu",
"transcript": "ENST00000683076.1",
"protein_id": "ENSP00000507895.1",
"transcript_support_level": null,
"aa_start": 2242,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6726,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385682.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683076.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3291G>C",
"hgvs_p": "p.Leu1097Leu",
"transcript": "ENST00000360240.10",
"protein_id": "ENSP00000353375.6",
"transcript_support_level": 1,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360240.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1314G>C",
"hgvs_p": "p.Leu438Leu",
"transcript": "ENST00000429422.5",
"protein_id": "ENSP00000416743.1",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 492,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429422.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6726G>C",
"hgvs_p": "p.Leu2242Leu",
"transcript": "ENST00000426837.6",
"protein_id": "ENSP00000407602.2",
"transcript_support_level": 5,
"aa_start": 2242,
"aa_end": null,
"aa_length": 2297,
"cds_start": 6726,
"cds_end": null,
"cds_length": 6894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426837.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6726G>C",
"hgvs_p": "p.Leu2242Leu",
"transcript": "NM_001385687.1",
"protein_id": "NP_001372616.1",
"transcript_support_level": null,
"aa_start": 2242,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6726,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385687.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6678G>C",
"hgvs_p": "p.Leu2226Leu",
"transcript": "ENST00000972337.1",
"protein_id": "ENSP00000642396.1",
"transcript_support_level": null,
"aa_start": 2226,
"aa_end": null,
"aa_length": 2280,
"cds_start": 6678,
"cds_end": null,
"cds_length": 6843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972337.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6675G>C",
"hgvs_p": "p.Leu2225Leu",
"transcript": "ENST00000922519.1",
"protein_id": "ENSP00000592578.1",
"transcript_support_level": null,
"aa_start": 2225,
"aa_end": null,
"aa_length": 2279,
"cds_start": 6675,
"cds_end": null,
"cds_length": 6840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922519.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6675G>C",
"hgvs_p": "p.Leu2225Leu",
"transcript": "ENST00000972351.1",
"protein_id": "ENSP00000642410.1",
"transcript_support_level": null,
"aa_start": 2225,
"aa_end": null,
"aa_length": 2279,
"cds_start": 6675,
"cds_end": null,
"cds_length": 6840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972351.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6663G>C",
"hgvs_p": "p.Leu2221Leu",
"transcript": "ENST00000972333.1",
"protein_id": "ENSP00000642392.1",
"transcript_support_level": null,
"aa_start": 2221,
"aa_end": null,
"aa_length": 2275,
"cds_start": 6663,
"cds_end": null,
"cds_length": 6828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972333.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6612G>C",
"hgvs_p": "p.Leu2204Leu",
"transcript": "NM_001385689.1",
"protein_id": "NP_001372618.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6612,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385689.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6612G>C",
"hgvs_p": "p.Leu2204Leu",
"transcript": "ENST00000972344.1",
"protein_id": "ENSP00000642403.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6612,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972344.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6612G>C",
"hgvs_p": "p.Leu2204Leu",
"transcript": "ENST00000972345.1",
"protein_id": "ENSP00000642404.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6612,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972345.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6612G>C",
"hgvs_p": "p.Leu2204Leu",
"transcript": "ENST00000972359.1",
"protein_id": "ENSP00000642418.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6612,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972359.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6561G>C",
"hgvs_p": "p.Leu2187Leu",
"transcript": "ENST00000972339.1",
"protein_id": "ENSP00000642398.1",
"transcript_support_level": null,
"aa_start": 2187,
"aa_end": null,
"aa_length": 2241,
"cds_start": 6561,
"cds_end": null,
"cds_length": 6726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972339.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6492G>C",
"hgvs_p": "p.Leu2164Leu",
"transcript": "NM_001385664.1",
"protein_id": "NP_001372593.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2219,
"cds_start": 6492,
"cds_end": null,
"cds_length": 6660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385664.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6495G>C",
"hgvs_p": "p.Leu2165Leu",
"transcript": "NM_001385688.1",
"protein_id": "NP_001372617.1",
"transcript_support_level": null,
"aa_start": 2165,
"aa_end": null,
"aa_length": 2219,
"cds_start": 6495,
"cds_end": null,
"cds_length": 6660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385688.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3378G>C",
"hgvs_p": "p.Leu1126Leu",
"transcript": "NM_001384745.1",
"protein_id": "NP_001371674.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3378,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384745.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3378G>C",
"hgvs_p": "p.Leu1126Leu",
"transcript": "NM_001384795.1",
"protein_id": "NP_001371724.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3378,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384795.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3342G>C",
"hgvs_p": "p.Leu1114Leu",
"transcript": "NM_001384736.1",
"protein_id": "NP_001371665.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1169,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384736.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3342G>C",
"hgvs_p": "p.Leu1114Leu",
"transcript": "NM_001384788.1",
"protein_id": "NP_001371717.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384788.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3342G>C",
"hgvs_p": "p.Leu1114Leu",
"transcript": "NM_001385686.1",
"protein_id": "NP_001372615.1",
"transcript_support_level": null,
"aa_start": 1114,
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{
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{
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],
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001385682.1",
"gene_symbol": "MAP4",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.6726G>C",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}