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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: 11-6614574-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6614574&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6614574,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000299427.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1664C>A",
"hgvs_p": "p.Ala555Asp",
"transcript": "NM_000391.4",
"protein_id": "NP_000382.3",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 563,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": "ENST00000299427.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1664C>A",
"hgvs_p": "p.Ala555Asp",
"transcript": "ENST00000299427.12",
"protein_id": "ENSP00000299427.6",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 563,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": "NM_000391.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ala312Asp",
"transcript": "ENST00000533371.6",
"protein_id": "ENSP00000437066.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 320,
"cds_start": 935,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Ala517Asp",
"transcript": "ENST00000682424.1",
"protein_id": "ENSP00000507321.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 525,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ala492Asp",
"transcript": "ENST00000644218.1",
"protein_id": "ENSP00000493574.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 500,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1385C>A",
"hgvs_p": "p.Ala462Asp",
"transcript": "ENST00000644810.1",
"protein_id": "ENSP00000495895.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 470,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1172C>A",
"hgvs_p": "p.Ala391Asp",
"transcript": "ENST00000643516.1",
"protein_id": "ENSP00000496372.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 399,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ala312Asp",
"transcript": "ENST00000642892.1",
"protein_id": "ENSP00000494165.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 320,
"cds_start": 935,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ala312Asp",
"transcript": "ENST00000645620.1",
"protein_id": "ENSP00000493657.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 320,
"cds_start": 935,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ala312Asp",
"transcript": "ENST00000647152.1",
"protein_id": "ENSP00000495893.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 320,
"cds_start": 935,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3414,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.703C>A",
"hgvs_p": null,
"transcript": "ENST00000524611.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2495,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*459C>A",
"hgvs_p": null,
"transcript": "ENST00000643342.1",
"protein_id": "ENSP00000494324.1",
"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": 2007,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*1404C>A",
"hgvs_p": null,
"transcript": "ENST00000643439.1",
"protein_id": "ENSP00000495849.1",
"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": 3288,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.1850C>A",
"hgvs_p": null,
"transcript": "ENST00000643479.1",
"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": 3640,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*1117C>A",
"hgvs_p": null,
"transcript": "ENST00000644683.1",
"protein_id": "ENSP00000494085.1",
"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": 3333,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.1840C>A",
"hgvs_p": null,
"transcript": "ENST00000644831.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3620,
"mane_select": null,
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"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*530C>A",
"hgvs_p": null,
"transcript": "ENST00000644933.1",
"protein_id": "ENSP00000496133.1",
"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": 3507,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*530C>A",
"hgvs_p": null,
"transcript": "ENST00000645285.1",
"protein_id": "ENSP00000495058.1",
"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": 3306,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.2869C>A",
"hgvs_p": null,
"transcript": "ENST00000645331.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4649,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.1551C>A",
"hgvs_p": null,
"transcript": "ENST00000646691.1",
"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": 3282,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.1997C>A",
"hgvs_p": null,
"transcript": "ENST00000646777.1",
"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,
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"cdna_length": 3787,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.2144C>A",
"hgvs_p": null,
"transcript": "ENST00000647016.1",
"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": 3750,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*1533C>A",
"hgvs_p": null,
"transcript": "ENST00000647209.1",
"protein_id": "ENSP00000495558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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},
{
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],
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}
],
"gene_symbol": "TPP1",
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"dbsnp": "rs200880556",
"frequency_reference_population": 0.0001009897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 163,
"gnomad_exomes_af": 0.000106711,
"gnomad_genomes_af": 0.0000460103,
"gnomad_exomes_ac": 156,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3128957450389862,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.479,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1283,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.072,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000299427.12",
"gene_symbol": "TPP1",
"hgnc_id": 2073,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1664C>A",
"hgvs_p": "p.Ala555Asp"
},
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000532191.2",
"gene_symbol": "ENSG00000285338",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.756+292C>A",
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}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis 2,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3 O:1",
"phenotype_combined": "not provided|Neuronal ceroid lipofuscinosis 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}