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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: 8-143817668-G-GTTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143817668&ref=G&alt=GTTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143817668,
"ref": "G",
"alt": "GTTTT",
"effect": "frameshift_variant",
"transcript": "ENST00000526683.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.931_932insAAAA",
"hgvs_p": "p.Thr311fs",
"transcript": "NM_078480.3",
"protein_id": "NP_510965.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 559,
"cds_start": 931,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000526683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.931_932insAAAA",
"hgvs_p": "p.Thr311fs",
"transcript": "ENST00000526683.6",
"protein_id": "ENSP00000434359.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 559,
"cds_start": 931,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_078480.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.880_881insAAAA",
"hgvs_p": "p.Thr294fs",
"transcript": "ENST00000349157.10",
"protein_id": "ENSP00000322036.7",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 542,
"cds_start": 880,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.802_803insAAAA",
"hgvs_p": "p.Thr268fs",
"transcript": "ENST00000453551.6",
"protein_id": "ENSP00000402953.2",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 516,
"cds_start": 802,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.751_752insAAAA",
"hgvs_p": "p.Thr251fs",
"transcript": "ENST00000313352.11",
"protein_id": "ENSP00000322016.7",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 499,
"cds_start": 751,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1042_1043insAAAA",
"hgvs_p": "p.Thr348fs",
"transcript": "NM_001362895.2",
"protein_id": "NP_001349824.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 596,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1042_1043insAAAA",
"hgvs_p": "p.Thr348fs",
"transcript": "NM_001362896.2",
"protein_id": "NP_001349825.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 596,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1042_1043insAAAA",
"hgvs_p": "p.Thr348fs",
"transcript": "ENST00000533162.2",
"protein_id": "ENSP00000433403.2",
"transcript_support_level": 3,
"aa_start": 348,
"aa_end": null,
"aa_length": 596,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1042_1043insAAAA",
"hgvs_p": "p.Thr348fs",
"transcript": "ENST00000703847.1",
"protein_id": "ENSP00000515499.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 596,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1006_1007insAAAA",
"hgvs_p": "p.Thr336fs",
"transcript": "ENST00000533362.2",
"protein_id": "ENSP00000515502.1",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 584,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1006_1007insAAAA",
"hgvs_p": "p.Thr336fs",
"transcript": "ENST00000703850.1",
"protein_id": "ENSP00000515503.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 584,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.991_992insAAAA",
"hgvs_p": "p.Thr331fs",
"transcript": "NM_001362897.2",
"protein_id": "NP_001349826.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 579,
"cds_start": 991,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.931_932insAAAA",
"hgvs_p": "p.Thr311fs",
"transcript": "ENST00000703866.1",
"protein_id": "ENSP00000515511.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 559,
"cds_start": 931,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.928_929insAAAA",
"hgvs_p": "p.Thr310fs",
"transcript": "NM_001271098.2",
"protein_id": "NP_001258027.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
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"cds_start": 928,
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"cdna_start": 940,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.928_929insAAAA",
"hgvs_p": "p.Thr310fs",
"transcript": "ENST00000527744.6",
"protein_id": "ENSP00000436131.2",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 558,
"cds_start": 928,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.880_881insAAAA",
"hgvs_p": "p.Thr294fs",
"transcript": "NM_014281.5",
"protein_id": "NP_055096.2",
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"aa_start": 294,
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"aa_length": 542,
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"cdna_start": 892,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.877_878insAAAA",
"hgvs_p": "p.Thr293fs",
"transcript": "NM_001271096.2",
"protein_id": "NP_001258025.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 541,
"cds_start": 877,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.877_878insAAAA",
"hgvs_p": "p.Thr293fs",
"transcript": "ENST00000526459.6",
"protein_id": "ENSP00000432610.2",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 541,
"cds_start": 877,
"cds_end": null,
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"cdna_start": 912,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.844_845insAAAA",
"hgvs_p": "p.Thr282fs",
"transcript": "NM_001271099.2",
"protein_id": "NP_001258028.1",
"transcript_support_level": null,
"aa_start": 282,
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},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.844_845insAAAA",
"hgvs_p": "p.Thr282fs",
"transcript": "ENST00000456095.6",
"protein_id": "ENSP00000395417.2",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.802_803insAAAA",
"hgvs_p": "p.Thr268fs",
"transcript": "NM_001136033.3",
"protein_id": "NP_001129505.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 516,
"cds_start": 802,
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"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.802_803insAAAA",
"hgvs_p": "p.Thr268fs",
"transcript": "ENST00000531951.6",
"protein_id": "ENSP00000515500.1",
"transcript_support_level": 3,
"aa_start": 268,
"aa_end": null,
"aa_length": 516,
"cds_start": 802,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "KN?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.633,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000526683.6",
"gene_symbol": "PUF60",
"hgnc_id": 17042,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.931_932insAAAA",
"hgvs_p": "p.Thr311fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}