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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: 12-57472521-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57472521&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57472521,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032496.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Pro731Arg",
"transcript": "NM_032496.4",
"protein_id": "NP_115885.2",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 731,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "ENST00000393791.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Pro731Arg",
"transcript": "ENST00000393791.8",
"protein_id": "ENSP00000377380.3",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 731,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "NM_032496.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2249C>G",
"hgvs_p": "p.Pro750Arg",
"transcript": "ENST00000393797.7",
"protein_id": "ENSP00000377386.3",
"transcript_support_level": 1,
"aa_start": 750,
"aa_end": null,
"aa_length": 750,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Pro547Arg",
"transcript": "ENST00000430041.6",
"protein_id": "ENSP00000397950.2",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 547,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2249C>G",
"hgvs_p": "p.Pro750Arg",
"transcript": "NM_001319850.2",
"protein_id": "NP_001306779.2",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 750,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1697C>G",
"hgvs_p": "p.Pro566Arg",
"transcript": "NM_001319852.2",
"protein_id": "NP_001306781.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 566,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Pro547Arg",
"transcript": "NM_001080156.3",
"protein_id": "NP_001073625.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 547,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Pro547Arg",
"transcript": "NM_001367426.1",
"protein_id": "NP_001354355.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 547,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1634C>G",
"hgvs_p": "p.Pro545Arg",
"transcript": "NM_001367422.1",
"protein_id": "NP_001354351.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 545,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "NM_001367423.1",
"protein_id": "NP_001354352.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 516,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Pro420Arg",
"transcript": "NM_001319851.2",
"protein_id": "NP_001306780.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 420,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.464C>G",
"hgvs_p": "p.Pro155Arg",
"transcript": "ENST00000550399.5",
"protein_id": "ENSP00000448404.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 155,
"cds_start": 464,
"cds_end": null,
"cds_length": 468,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2393C>G",
"hgvs_p": "p.Pro798Arg",
"transcript": "XM_047429329.1",
"protein_id": "XP_047285285.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 798,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2249C>G",
"hgvs_p": "p.Pro750Arg",
"transcript": "XM_047429330.1",
"protein_id": "XP_047285286.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 750,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2249C>G",
"hgvs_p": "p.Pro750Arg",
"transcript": "XM_047429331.1",
"protein_id": "XP_047285287.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 750,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Pro731Arg",
"transcript": "XM_011538656.3",
"protein_id": "XP_011536958.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 731,
"cds_start": 2192,
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"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Pro731Arg",
"transcript": "XM_047429332.1",
"protein_id": "XP_047285288.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 731,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Pro731Arg",
"transcript": "XM_047429333.1",
"protein_id": "XP_047285289.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 731,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1697C>G",
"hgvs_p": "p.Pro566Arg",
"transcript": "XM_005269083.3",
"protein_id": "XP_005269140.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 566,
"cds_start": 1697,
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"cdna_start": 1794,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1697C>G",
"hgvs_p": "p.Pro566Arg",
"transcript": "XM_047429336.1",
"protein_id": "XP_047285292.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 566,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Pro547Arg",
"transcript": "XM_047429337.1",
"protein_id": "XP_047285293.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 547,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 1999,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "n.2001C>G",
"hgvs_p": null,
"transcript": "ENST00000546200.5",
"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": 2256,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "n.761C>G",
"hgvs_p": null,
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},
{
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],
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}
],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18786823749542236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032496.4",
"gene_symbol": "ARHGAP9",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}