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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: 17-19360343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19360343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19360343,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261499.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_015681.6",
"protein_id": "NP_056496.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 204,
"cds_start": 109,
"cds_end": null,
"cds_length": 615,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 913,
"mane_select": "ENST00000261499.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000261499.11",
"protein_id": "ENSP00000261499.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 204,
"cds_start": 109,
"cds_end": null,
"cds_length": 615,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 913,
"mane_select": "NM_015681.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000268841.10",
"protein_id": "ENSP00000268841.6",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 153,
"cds_start": 109,
"cds_end": null,
"cds_length": 462,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000477683.5",
"protein_id": "ENSP00000494660.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 135,
"cds_start": 109,
"cds_end": null,
"cds_length": 408,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000663089.1",
"protein_id": "ENSP00000499469.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 204,
"cds_start": 109,
"cds_end": null,
"cds_length": 615,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001321214.2",
"protein_id": "NP_001308143.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 187,
"cds_start": 109,
"cds_end": null,
"cds_length": 564,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000395616.7",
"protein_id": "ENSP00000378978.3",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 187,
"cds_start": 109,
"cds_end": null,
"cds_length": 564,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000671102.1",
"protein_id": "ENSP00000499690.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 187,
"cds_start": 109,
"cds_end": null,
"cds_length": 564,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001321217.2",
"protein_id": "NP_001308146.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 186,
"cds_start": 109,
"cds_end": null,
"cds_length": 561,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000461069.6",
"protein_id": "ENSP00000433359.2",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 186,
"cds_start": 109,
"cds_end": null,
"cds_length": 561,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001321215.3",
"protein_id": "NP_001308144.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 183,
"cds_start": 109,
"cds_end": null,
"cds_length": 552,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000647252.1",
"protein_id": "ENSP00000495045.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 183,
"cds_start": 109,
"cds_end": null,
"cds_length": 552,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001321218.2",
"protein_id": "NP_001308147.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 166,
"cds_start": 109,
"cds_end": null,
"cds_length": 501,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001330149.2",
"protein_id": "NP_001317078.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 161,
"cds_start": 109,
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"cdna_start": 263,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001321219.2",
"protein_id": "NP_001308148.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 155,
"cds_start": 109,
"cds_end": null,
"cds_length": 468,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000675510.1",
"protein_id": "ENSP00000501817.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 155,
"cds_start": 109,
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"cdna_start": 244,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001321216.2",
"protein_id": "NP_001308145.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 153,
"cds_start": 109,
"cds_end": null,
"cds_length": 462,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Gly28Ser",
"transcript": "ENST00000440841.1",
"protein_id": "ENSP00000410835.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 133,
"cds_start": 82,
"cds_end": null,
"cds_length": 402,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "XM_047435751.1",
"protein_id": "XP_047291707.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 204,
"cds_start": 109,
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"cdna_start": 1619,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "XM_047435752.1",
"protein_id": "XP_047291708.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 187,
"cds_start": 109,
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"cdna_start": 1619,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "XM_047435753.1",
"protein_id": "XP_047291709.1",
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"aa_start": 37,
"aa_end": null,
"aa_length": 166,
"cds_start": 109,
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"cdna_start": 1619,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "XM_047435754.1",
"protein_id": "XP_047291710.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 161,
"cds_start": 109,
"cds_end": null,
"cds_length": 486,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 8427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "XM_047435755.1",
"protein_id": "XP_047291711.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
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}
],
"gene_symbol": "B9D1",
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"dbsnp": "rs771997194",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 4,
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"computational_score_selected": 0.9729920625686646,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.674,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7835,
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"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.185,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000261499.11",
"gene_symbol": "B9D1",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "B9D1-related disorder,Joubert syndrome,Meckel-Gruber syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Joubert syndrome;Meckel-Gruber syndrome|B9D1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}