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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: 11-134259029-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=134259029&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 134259029,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001441136.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "NM_014384.3",
"protein_id": "NP_055199.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 415,
"cds_start": 512,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281182.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014384.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "ENST00000281182.9",
"protein_id": "ENSP00000281182.5",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 415,
"cds_start": 512,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014384.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281182.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "n.366C>G",
"hgvs_p": null,
"transcript": "ENST00000527082.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527082.5"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "n.368C>G",
"hgvs_p": null,
"transcript": "ENST00000531338.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531338.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "ENST00000869565.1",
"protein_id": "ENSP00000539624.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 503,
"cds_start": 512,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869565.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "NM_001441136.1",
"protein_id": "NP_001428065.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 451,
"cds_start": 512,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441136.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "ENST00000952159.1",
"protein_id": "ENSP00000622218.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 429,
"cds_start": 512,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952159.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.542C>G",
"hgvs_p": "p.Ser181Cys",
"transcript": "ENST00000869568.1",
"protein_id": "ENSP00000539627.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 425,
"cds_start": 542,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869568.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.533C>G",
"hgvs_p": "p.Ser178Cys",
"transcript": "ENST00000918779.1",
"protein_id": "ENSP00000588838.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 422,
"cds_start": 533,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918779.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ser170Cys",
"transcript": "ENST00000952155.1",
"protein_id": "ENSP00000622214.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 509,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952155.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "ENST00000869566.1",
"protein_id": "ENSP00000539625.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 411,
"cds_start": 512,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869566.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "ENST00000952156.1",
"protein_id": "ENSP00000622215.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 409,
"cds_start": 512,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952156.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Cys",
"transcript": "ENST00000952157.1",
"protein_id": "ENSP00000622216.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 407,
"cds_start": 488,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952157.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "ENST00000952158.1",
"protein_id": "ENSP00000622217.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 369,
"cds_start": 512,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952158.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "ENST00000869567.1",
"protein_id": "ENSP00000539626.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 364,
"cds_start": 512,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869567.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.218C>G",
"hgvs_p": "p.Ser73Cys",
"transcript": "NM_001441138.1",
"protein_id": "NP_001428067.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 317,
"cds_start": 218,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441138.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Cys",
"transcript": "ENST00000374752.6",
"protein_id": "ENSP00000363884.4",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 288,
"cds_start": 131,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374752.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "NM_001441137.1",
"protein_id": "NP_001428066.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 249,
"cds_start": 512,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441137.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Ser171Cys",
"transcript": "XM_047426768.1",
"protein_id": "XP_047282724.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 434,
"cds_start": 512,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426768.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.218C>G",
"hgvs_p": "p.Ser73Cys",
"transcript": "XM_047426769.1",
"protein_id": "XP_047282725.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 353,
"cds_start": 218,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426769.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.211-579C>G",
"hgvs_p": null,
"transcript": "ENST00000869570.1",
"protein_id": "ENSP00000539629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": null,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACAD8",
"gene_hgnc_id": 87,
"hgvs_c": "c.211-579C>G",
"hgvs_p": null,
"transcript": "ENST00000869564.1",
"protein_id": "ENSP00000539623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.935,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.806,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001441136.1",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ser171Cys"
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],
"clinvar_disease": "Deficiency of isobutyryl-CoA dehydrogenase,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:5",
"phenotype_combined": "not specified|Deficiency of isobutyryl-CoA dehydrogenase|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}