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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: 8-100712798-C-CAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100712798&ref=C&alt=CAAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 100712798,
"ref": "C",
"alt": "CAAAA",
"effect": "intron_variant",
"transcript": "NM_002568.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "NM_002568.4",
"protein_id": "NP_002559.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318607.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002568.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000318607.10",
"protein_id": "ENSP00000313007.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002568.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318607.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.595-13_595-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000610907.2",
"protein_id": "ENSP00000478108.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610907.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.832-13_832-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000900770.1",
"protein_id": "ENSP00000570829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": null,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900770.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "NM_001438282.1",
"protein_id": "NP_001425211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438282.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000520142.2",
"protein_id": "ENSP00000430012.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520142.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000520804.2",
"protein_id": "ENSP00000428749.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520804.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000521865.6",
"protein_id": "ENSP00000429119.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521865.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000522658.6",
"protein_id": "ENSP00000428840.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522658.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000522720.2",
"protein_id": "ENSP00000429790.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522720.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000523555.6",
"protein_id": "ENSP00000429892.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000523555.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
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"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000900764.1",
"protein_id": "ENSP00000570823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900764.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000900773.1",
"protein_id": "ENSP00000570832.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000900773.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
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"gene_symbol": "PABPC1",
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"hgvs_c": "c.739-13_739-10dupTTTT",
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"transcript": "ENST00000938879.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000938879.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000938880.1",
"protein_id": "ENSP00000608939.1",
"transcript_support_level": null,
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"feature": "ENST00000938880.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "PABPC1",
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"transcript": "ENST00000951436.1",
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"biotype": "protein_coding",
"feature": "ENST00000951436.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000951437.1",
"protein_id": "ENSP00000621496.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000951437.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000900766.1",
"protein_id": "ENSP00000570825.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
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"hgvs_c": "c.730-13_730-10dupTTTT",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PABPC1",
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"hgvs_c": "c.730-13_730-10dupTTTT",
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"feature": "ENST00000938882.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000900771.1",
"protein_id": "ENSP00000570830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.739-13_739-10dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000900765.1",
"protein_id": "ENSP00000570824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
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"cds_length": 1830,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900765.1"
},
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_002568.4",
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},
{
"score": 2,
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000849485.1",
"gene_symbol": "ENSG00000310385",
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"effects": [
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],
"inheritance_mode": "",
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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
}