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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: 20-19975749-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19975749&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 19975749,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000255006.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1731delC",
"hgvs_p": "p.Ile578fs",
"transcript": "NM_018993.4",
"protein_id": "NP_061866.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 895,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "ENST00000255006.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1731delC",
"hgvs_p": "p.Ile578fs",
"transcript": "ENST00000255006.12",
"protein_id": "ENSP00000255006.7",
"transcript_support_level": 2,
"aa_start": 577,
"aa_end": null,
"aa_length": 895,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1963,
"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.1575delC",
"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.464-14250delC",
"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": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "NM_001242581.2",
"protein_id": "NP_001229510.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1731delC",
"hgvs_p": "p.Ile578fs",
"transcript": "ENST00000648440.1",
"protein_id": "ENSP00000498085.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 895,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1113delC",
"hgvs_p": "p.Ile372fs",
"transcript": "NM_001378238.1",
"protein_id": "NP_001365167.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 689,
"cds_start": 1113,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "XM_017027887.2",
"protein_id": "XP_016883376.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "XM_017027888.2",
"protein_id": "XP_016883377.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "XM_047440209.1",
"protein_id": "XP_047296165.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "XM_047440210.1",
"protein_id": "XP_047296166.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "XM_047440211.1",
"protein_id": "XP_047296167.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "XM_047440212.1",
"protein_id": "XP_047296168.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1878delC",
"hgvs_p": "p.Ile627fs",
"transcript": "XM_047440213.1",
"protein_id": "XP_047296169.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 944,
"cds_start": 1878,
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"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1827delC",
"hgvs_p": "p.Ile610fs",
"transcript": "XM_011529255.3",
"protein_id": "XP_011527557.3",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 927,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1821delC",
"hgvs_p": "p.Ile608fs",
"transcript": "XM_017027889.2",
"protein_id": "XP_016883378.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 925,
"cds_start": 1821,
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"cds_length": 2778,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1731delC",
"hgvs_p": "p.Ile578fs",
"transcript": "XM_006723577.2",
"protein_id": "XP_006723640.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 895,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1731delC",
"hgvs_p": "p.Ile578fs",
"transcript": "XM_017027890.2",
"protein_id": "XP_016883379.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 895,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1731delC",
"hgvs_p": "p.Ile578fs",
"transcript": "XM_047440214.1",
"protein_id": "XP_047296170.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 895,
"cds_start": 1731,
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"cdna_start": 2247,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1731delC",
"hgvs_p": "p.Ile578fs",
"transcript": "XM_047440215.1",
"protein_id": "XP_047296171.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 895,
"cds_start": 1731,
"cds_end": null,
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"cdna_start": 2039,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1596delC",
"hgvs_p": "p.Ile533fs",
"transcript": "XM_047440216.1",
"protein_id": "XP_047296172.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 850,
"cds_start": 1596,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1572delC",
"hgvs_p": "p.Ile525fs",
"transcript": "XM_011529259.3",
"protein_id": "XP_011527561.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 842,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1572delC",
"hgvs_p": "p.Ile525fs",
"transcript": "XM_017027892.2",
"protein_id": "XP_016883381.1",
"transcript_support_level": null,
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},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1827delC",
"hgvs_p": "p.Ile610fs",
"transcript": "XM_017027893.2",
"protein_id": "XP_016883382.2",
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"aa_start": 609,
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"feature": null
}
],
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"dbsnp": "rs759390822",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.061,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000255006.12",
"gene_symbol": "RIN2",
"hgnc_id": 18750,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1731delC",
"hgvs_p": "p.Ile578fs"
}
],
"clinvar_disease": "RIN2 syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "RIN2 syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}