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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: 12-57474695-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57474695&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57474695,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032496.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Val554Leu",
"transcript": "NM_032496.4",
"protein_id": "NP_115885.2",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 731,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "ENST00000393791.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Val554Leu",
"transcript": "ENST00000393791.8",
"protein_id": "ENSP00000377380.3",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 731,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "NM_032496.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1717G>T",
"hgvs_p": "p.Val573Leu",
"transcript": "ENST00000393797.7",
"protein_id": "ENSP00000377386.3",
"transcript_support_level": 1,
"aa_start": 573,
"aa_end": null,
"aa_length": 750,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108G>T",
"hgvs_p": "p.Val370Leu",
"transcript": "ENST00000430041.6",
"protein_id": "ENSP00000397950.2",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 547,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1717G>T",
"hgvs_p": "p.Val573Leu",
"transcript": "NM_001319850.2",
"protein_id": "NP_001306779.2",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 750,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Val554Leu",
"transcript": "ENST00000550288.6",
"protein_id": "ENSP00000473445.2",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
"aa_length": 657,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Val554Leu",
"transcript": "NM_001080157.2",
"protein_id": "NP_001073626.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 640,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Val554Leu",
"transcript": "ENST00000424809.6",
"protein_id": "ENSP00000394307.2",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
"aa_length": 640,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Val389Leu",
"transcript": "NM_001319852.2",
"protein_id": "NP_001306781.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 566,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108G>T",
"hgvs_p": "p.Val370Leu",
"transcript": "NM_001080156.3",
"protein_id": "NP_001073625.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 547,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108G>T",
"hgvs_p": "p.Val370Leu",
"transcript": "NM_001367426.1",
"protein_id": "NP_001354355.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 547,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1015G>T",
"hgvs_p": "p.Val339Leu",
"transcript": "NM_001367423.1",
"protein_id": "NP_001354352.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 516,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108G>T",
"hgvs_p": "p.Val370Leu",
"transcript": "NM_001367424.1",
"protein_id": "NP_001354353.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 456,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1015G>T",
"hgvs_p": "p.Val339Leu",
"transcript": "NM_001367425.1",
"protein_id": "NP_001354354.1",
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"aa_end": null,
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"cds_start": 1015,
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"cdna_start": 1116,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.727G>T",
"hgvs_p": "p.Val243Leu",
"transcript": "NM_001319851.2",
"protein_id": "NP_001306780.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 420,
"cds_start": 727,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.181G>T",
"hgvs_p": "p.Val61Leu",
"transcript": "ENST00000550130.1",
"protein_id": "ENSP00000448423.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
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"cds_start": 181,
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"cdna_start": 181,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.67G>T",
"hgvs_p": "p.Val23Leu",
"transcript": "ENST00000550399.5",
"protein_id": "ENSP00000448404.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 155,
"cds_start": 67,
"cds_end": null,
"cds_length": 468,
"cdna_start": 69,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1861G>T",
"hgvs_p": "p.Val621Leu",
"transcript": "XM_047429329.1",
"protein_id": "XP_047285285.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 798,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2064,
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"cdna_length": 2848,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1717G>T",
"hgvs_p": "p.Val573Leu",
"transcript": "XM_047429330.1",
"protein_id": "XP_047285286.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 750,
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"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1717G>T",
"hgvs_p": "p.Val573Leu",
"transcript": "XM_047429331.1",
"protein_id": "XP_047285287.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 750,
"cds_start": 1717,
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"cdna_start": 2005,
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"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Val554Leu",
"transcript": "XM_011538656.3",
"protein_id": "XP_011536958.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 731,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Val554Leu",
"transcript": "XM_047429332.1",
"protein_id": "XP_047285288.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 731,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
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"phenotype_combined": "not specified",
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}