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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: 2-74490415-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74490415&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74490415,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022492.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "NM_022492.6",
"protein_id": "NP_071937.4",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 519,
"cds_start": 404,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "ENST00000233623.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "ENST00000233623.11",
"protein_id": "ENSP00000233623.6",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 519,
"cds_start": 404,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "NM_022492.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "ENST00000410003.5",
"protein_id": "ENSP00000387213.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 340,
"cds_start": 404,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "ENST00000442235.6",
"protein_id": "ENSP00000416823.3",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 285,
"cds_start": 404,
"cds_end": null,
"cds_length": 858,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.301G>C",
"hgvs_p": null,
"transcript": "ENST00000424122.5",
"protein_id": "ENSP00000388495.1",
"transcript_support_level": 1,
"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": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.413G>C",
"hgvs_p": null,
"transcript": "ENST00000464241.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "NM_001376138.1",
"protein_id": "NP_001363067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "NM_001376141.1",
"protein_id": "NP_001363070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "NM_001376139.1",
"protein_id": "NP_001363068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "NM_001376140.1",
"protein_id": "NP_001363069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "NM_001376145.1",
"protein_id": "NP_001363074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "NM_001376144.1",
"protein_id": "NP_001363073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "XM_047445420.1",
"protein_id": "XP_047301376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.-29G>C",
"hgvs_p": null,
"transcript": "XM_047445421.1",
"protein_id": "XP_047301377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "NM_001376129.1",
"protein_id": "NP_001363058.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 537,
"cds_start": 404,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "NM_001376130.1",
"protein_id": "NP_001363059.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 518,
"cds_start": 404,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "NM_001376132.1",
"protein_id": "NP_001363061.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 517,
"cds_start": 404,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "NM_001376133.1",
"protein_id": "NP_001363062.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 516,
"cds_start": 404,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Ser64Thr",
"transcript": "NM_001376134.1",
"protein_id": "NP_001363063.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 448,
"cds_start": 191,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Ser64Thr",
"transcript": "NM_001376135.1",
"protein_id": "NP_001363064.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 446,
"cds_start": 191,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "NM_001376136.1",
"protein_id": "NP_001363065.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 424,
"cds_start": 404,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr",
"transcript": "NM_001376137.1",
"protein_id": "NP_001363066.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 423,
"cds_start": 404,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.404G>C",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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"5_prime_UTR_variant"
],
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"gene_symbol": "TTC31",
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}
],
"gene_symbol": "TTC31",
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"dbsnp": "rs373087515",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07996058464050293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.892,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022492.6",
"gene_symbol": "TTC31",
"hgnc_id": 25759,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Ser135Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}