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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: 20-19990156-AGC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19990156&ref=AGC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 19990156,
"ref": "AGC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000255006.12",
"consequences": [
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1914_1915delGC",
"hgvs_p": "p.Glu638fs",
"transcript": "NM_018993.4",
"protein_id": "NP_061866.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "ENST00000255006.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1914_1915delGC",
"hgvs_p": "p.Glu638fs",
"transcript": "ENST00000255006.12",
"protein_id": "ENSP00000255006.7",
"transcript_support_level": 2,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "NM_018993.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.615_616delGC",
"hgvs_p": "p.Glu205fs",
"transcript": "ENST00000440354.2",
"protein_id": "ENSP00000391239.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 462,
"cds_start": 615,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.1758_1759delGC",
"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": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "NM_001242581.2",
"protein_id": "NP_001229510.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1914_1915delGC",
"hgvs_p": "p.Glu638fs",
"transcript": "ENST00000648440.1",
"protein_id": "ENSP00000498085.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1296_1297delGC",
"hgvs_p": "p.Glu432fs",
"transcript": "NM_001378238.1",
"protein_id": "NP_001365167.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 689,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "XM_017027887.2",
"protein_id": "XP_016883376.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "XM_017027888.2",
"protein_id": "XP_016883377.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "XM_047440209.1",
"protein_id": "XP_047296165.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "XM_047440210.1",
"protein_id": "XP_047296166.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "XM_047440211.1",
"protein_id": "XP_047296167.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "XM_047440212.1",
"protein_id": "XP_047296168.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2061_2062delGC",
"hgvs_p": "p.Glu687fs",
"transcript": "XM_047440213.1",
"protein_id": "XP_047296169.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 944,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2010_2011delGC",
"hgvs_p": "p.Glu670fs",
"transcript": "XM_011529255.3",
"protein_id": "XP_011527557.3",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 927,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2004_2005delGC",
"hgvs_p": "p.Glu668fs",
"transcript": "XM_017027889.2",
"protein_id": "XP_016883378.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 925,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1914_1915delGC",
"hgvs_p": "p.Glu638fs",
"transcript": "XM_006723577.2",
"protein_id": "XP_006723640.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1914_1915delGC",
"hgvs_p": "p.Glu638fs",
"transcript": "XM_017027890.2",
"protein_id": "XP_016883379.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1914_1915delGC",
"hgvs_p": "p.Glu638fs",
"transcript": "XM_047440214.1",
"protein_id": "XP_047296170.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1914,
"cds_end": null,
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"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1914_1915delGC",
"hgvs_p": "p.Glu638fs",
"transcript": "XM_047440215.1",
"protein_id": "XP_047296171.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1779_1780delGC",
"hgvs_p": "p.Glu593fs",
"transcript": "XM_047440216.1",
"protein_id": "XP_047296172.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 850,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1755_1756delGC",
"hgvs_p": "p.Glu585fs",
"transcript": "XM_011529259.3",
"protein_id": "XP_011527561.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 842,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1755_1756delGC",
"hgvs_p": "p.Glu585fs",
"transcript": "XM_017027892.2",
"protein_id": "XP_016883381.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 842,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"dbsnp": "rs587776915",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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,
"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": 1.9,
"phylop100way_prediction": "Benign",
"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": 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.1914_1915delGC",
"hgvs_p": "p.Glu638fs"
}
],
"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
}