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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: 7-141614164-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=141614164&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 141614164,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000649286.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "NM_018238.4",
"protein_id": "NP_060708.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 422,
"cds_start": 409,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "ENST00000649286.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "ENST00000649286.2",
"protein_id": "ENSP00000497280.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 422,
"cds_start": 409,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "NM_018238.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "ENST00000648068.1",
"protein_id": "ENSP00000498112.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 422,
"cds_start": 409,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "ENST00000650547.1",
"protein_id": "ENSP00000496789.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 422,
"cds_start": 409,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.397C>A",
"hgvs_p": "p.Arg133Arg",
"transcript": "ENST00000649914.1",
"protein_id": "ENSP00000497848.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 418,
"cds_start": 397,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.325C>A",
"hgvs_p": "p.Arg109Arg",
"transcript": "ENST00000473247.5",
"protein_id": "ENSP00000420776.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 394,
"cds_start": 325,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "NM_001364948.3",
"protein_id": "NP_001351877.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 350,
"cds_start": 409,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "ENST00000650006.1",
"protein_id": "ENSP00000497457.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 350,
"cds_start": 409,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.133C>A",
"hgvs_p": "p.Arg45Arg",
"transcript": "ENST00000648395.1",
"protein_id": "ENSP00000497666.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 330,
"cds_start": 133,
"cds_end": null,
"cds_length": 993,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Arg134Arg",
"transcript": "ENST00000629555.2",
"protein_id": "ENSP00000487274.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 244,
"cds_start": 400,
"cds_end": null,
"cds_length": 735,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.133C>A",
"hgvs_p": "p.Arg45Arg",
"transcript": "ENST00000648690.1",
"protein_id": "ENSP00000497945.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 137,
"cds_start": 133,
"cds_end": null,
"cds_length": 414,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "XM_011516397.4",
"protein_id": "XP_011514699.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 422,
"cds_start": 409,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 4057,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg",
"transcript": "XM_024446835.2",
"protein_id": "XP_024302603.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 422,
"cds_start": 409,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 3812,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.420C>A",
"hgvs_p": null,
"transcript": "ENST00000465241.5",
"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": 988,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*228C>A",
"hgvs_p": null,
"transcript": "ENST00000473884.5",
"protein_id": "ENSP00000420540.1",
"transcript_support_level": 5,
"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": 568,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.400C>A",
"hgvs_p": null,
"transcript": "ENST00000494688.1",
"protein_id": "ENSP00000418101.1",
"transcript_support_level": 5,
"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": 951,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.172C>A",
"hgvs_p": null,
"transcript": "ENST00000496273.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 491,
"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": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.409C>A",
"hgvs_p": null,
"transcript": "ENST00000647568.1",
"protein_id": "ENSP00000497039.1",
"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": 2636,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.299C>A",
"hgvs_p": null,
"transcript": "ENST00000647898.1",
"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": 1793,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.440C>A",
"hgvs_p": null,
"transcript": "ENST00000648489.1",
"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": 1918,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.409C>A",
"hgvs_p": null,
"transcript": "ENST00000649014.1",
"protein_id": "ENSP00000497984.1",
"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": 3707,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*417C>A",
"hgvs_p": null,
"transcript": "ENST00000649365.1",
"protein_id": "ENSP00000496835.1",
"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": 3874,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.437C>A",
"hgvs_p": null,
"transcript": "ENST00000649538.1",
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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{
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},
{
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}
],
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.20000000298023224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.683,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000649286.2",
"gene_symbol": "AGK",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Arg137Arg"
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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
}