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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: 20-19975452-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19975452&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 19975452,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000255006.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His",
"transcript": "NM_018993.4",
"protein_id": "NP_061866.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 895,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "ENST00000255006.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His",
"transcript": "ENST00000255006.12",
"protein_id": "ENSP00000255006.7",
"transcript_support_level": 2,
"aa_start": 476,
"aa_end": null,
"aa_length": 895,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "NM_018993.4",
"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": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.1271C>A",
"hgvs_p": null,
"transcript": "ENST00000484638.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.464-14554C>A",
"hgvs_p": null,
"transcript": "ENST00000440354.2",
"protein_id": "ENSP00000391239.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "NM_001242581.2",
"protein_id": "NP_001229510.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His",
"transcript": "ENST00000648440.1",
"protein_id": "ENSP00000498085.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 895,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1723,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.809C>A",
"hgvs_p": "p.Pro270His",
"transcript": "NM_001378238.1",
"protein_id": "NP_001365167.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 689,
"cds_start": 809,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "XM_017027887.2",
"protein_id": "XP_016883376.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "XM_017027888.2",
"protein_id": "XP_016883377.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "XM_047440209.1",
"protein_id": "XP_047296165.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "XM_047440210.1",
"protein_id": "XP_047296166.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "XM_047440211.1",
"protein_id": "XP_047296167.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "XM_047440212.1",
"protein_id": "XP_047296168.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1574C>A",
"hgvs_p": "p.Pro525His",
"transcript": "XM_047440213.1",
"protein_id": "XP_047296169.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 944,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1523C>A",
"hgvs_p": "p.Pro508His",
"transcript": "XM_011529255.3",
"protein_id": "XP_011527557.3",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 927,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Pro506His",
"transcript": "XM_017027889.2",
"protein_id": "XP_016883378.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 925,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His",
"transcript": "XM_006723577.2",
"protein_id": "XP_006723640.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 895,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His",
"transcript": "XM_017027890.2",
"protein_id": "XP_016883379.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 895,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His",
"transcript": "XM_047440214.1",
"protein_id": "XP_047296170.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 895,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His",
"transcript": "XM_047440215.1",
"protein_id": "XP_047296171.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 895,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1292C>A",
"hgvs_p": "p.Pro431His",
"transcript": "XM_047440216.1",
"protein_id": "XP_047296172.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 850,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1268C>A",
"hgvs_p": "p.Pro423His",
"transcript": "XM_011529259.3",
"protein_id": "XP_011527561.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 842,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1268C>A",
"hgvs_p": "p.Pro423His",
"transcript": "XM_017027892.2",
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"aa_length": 842,
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"cdna_start": 1532,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
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"hgvs_c": "c.1523C>A",
"hgvs_p": "p.Pro508His",
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"protein_id": "XP_016883382.2",
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"aa_start": 508,
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"cds_start": 1523,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1573,
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"cdna_length": 6170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"dbsnp": "rs35142632",
"frequency_reference_population": 0.0000020523908,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205239,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2198420763015747,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.2806,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.776,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000255006.12",
"gene_symbol": "RIN2",
"hgnc_id": 18750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1427C>A",
"hgvs_p": "p.Pro476His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}