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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: 12-57472614-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57472614&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57472614,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032496.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2099G>A",
"hgvs_p": "p.Arg700Gln",
"transcript": "NM_032496.4",
"protein_id": "NP_115885.2",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 731,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "ENST00000393791.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2099G>A",
"hgvs_p": "p.Arg700Gln",
"transcript": "ENST00000393791.8",
"protein_id": "ENSP00000377380.3",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 731,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "NM_032496.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2156G>A",
"hgvs_p": "p.Arg719Gln",
"transcript": "ENST00000393797.7",
"protein_id": "ENSP00000377386.3",
"transcript_support_level": 1,
"aa_start": 719,
"aa_end": null,
"aa_length": 750,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1547G>A",
"hgvs_p": "p.Arg516Gln",
"transcript": "ENST00000430041.6",
"protein_id": "ENSP00000397950.2",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2156G>A",
"hgvs_p": "p.Arg719Gln",
"transcript": "NM_001319850.2",
"protein_id": "NP_001306779.2",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 750,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1604G>A",
"hgvs_p": "p.Arg535Gln",
"transcript": "NM_001319852.2",
"protein_id": "NP_001306781.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 566,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1547G>A",
"hgvs_p": "p.Arg516Gln",
"transcript": "NM_001080156.3",
"protein_id": "NP_001073625.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1547G>A",
"hgvs_p": "p.Arg516Gln",
"transcript": "NM_001367426.1",
"protein_id": "NP_001354355.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1541G>A",
"hgvs_p": "p.Arg514Gln",
"transcript": "NM_001367422.1",
"protein_id": "NP_001354351.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 545,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1454G>A",
"hgvs_p": "p.Arg485Gln",
"transcript": "NM_001367423.1",
"protein_id": "NP_001354352.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 516,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "NM_001319851.2",
"protein_id": "NP_001306780.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 420,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.371G>A",
"hgvs_p": "p.Arg124Gln",
"transcript": "ENST00000550399.5",
"protein_id": "ENSP00000448404.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 155,
"cds_start": 371,
"cds_end": null,
"cds_length": 468,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2300G>A",
"hgvs_p": "p.Arg767Gln",
"transcript": "XM_047429329.1",
"protein_id": "XP_047285285.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 798,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2156G>A",
"hgvs_p": "p.Arg719Gln",
"transcript": "XM_047429330.1",
"protein_id": "XP_047285286.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 750,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2156G>A",
"hgvs_p": "p.Arg719Gln",
"transcript": "XM_047429331.1",
"protein_id": "XP_047285287.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 750,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2099G>A",
"hgvs_p": "p.Arg700Gln",
"transcript": "XM_011538656.3",
"protein_id": "XP_011536958.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 731,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2099G>A",
"hgvs_p": "p.Arg700Gln",
"transcript": "XM_047429332.1",
"protein_id": "XP_047285288.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 731,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2099G>A",
"hgvs_p": "p.Arg700Gln",
"transcript": "XM_047429333.1",
"protein_id": "XP_047285289.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 731,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1604G>A",
"hgvs_p": "p.Arg535Gln",
"transcript": "XM_005269083.3",
"protein_id": "XP_005269140.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 566,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1604G>A",
"hgvs_p": "p.Arg535Gln",
"transcript": "XM_047429336.1",
"protein_id": "XP_047285292.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 566,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1547G>A",
"hgvs_p": "p.Arg516Gln",
"transcript": "XM_047429337.1",
"protein_id": "XP_047285293.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1654,
"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.1908G>A",
"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",
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"hgvs_c": "n.668G>A",
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}
],
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.078,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_032496.4",
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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
}