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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: 20-19974967-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19974967&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RIN2",
"hgnc_id": 18750,
"hgvs_c": "c.1089C>T",
"hgvs_p": "p.Pro363Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -11,
"transcript": "NM_001242581.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 101,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "20",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_018993.4",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255006.12",
"protein_coding": true,
"protein_id": "NP_061866.1",
"strand": true,
"transcript": "NM_018993.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000255006.12",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018993.4",
"protein_coding": true,
"protein_id": "ENSP00000255006.7",
"strand": true,
"transcript": "ENST00000255006.12",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 462,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": null,
"cds_end": null,
"cds_length": 1389,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000440354.2",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.463+14156C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391239.2",
"strand": true,
"transcript": "ENST00000440354.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000484638.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "n.786C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484638.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 944,
"aa_ref": "P",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 2835,
"cds_start": 1089,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001242581.2",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.1089C>T",
"hgvs_p": "p.Pro363Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229510.1",
"strand": true,
"transcript": "NM_001242581.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 906,
"aa_ref": "P",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4635,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 2721,
"cds_start": 975,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944194.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.975C>T",
"hgvs_p": "p.Pro325Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614253.1",
"strand": true,
"transcript": "ENST00000944194.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4505,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000648440.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498085.1",
"strand": true,
"transcript": "ENST00000648440.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5819,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891327.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561386.1",
"strand": true,
"transcript": "ENST00000891327.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4335,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891328.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561387.1",
"strand": true,
"transcript": "ENST00000891328.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4271,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891329.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561388.1",
"strand": true,
"transcript": "ENST00000891329.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4901,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944192.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614251.1",
"strand": true,
"transcript": "ENST00000944192.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944193.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614252.1",
"strand": true,
"transcript": "ENST00000944193.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4716,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944195.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614254.1",
"strand": true,
"transcript": "ENST00000944195.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944196.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614255.1",
"strand": true,
"transcript": "ENST00000944196.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944197.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614256.1",
"strand": true,
"transcript": "ENST00000944197.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944198.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614257.1",
"strand": true,
"transcript": "ENST00000944198.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4565,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944199.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614258.1",
"strand": true,
"transcript": "ENST00000944199.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4432,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944200.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614259.1",
"strand": true,
"transcript": "ENST00000944200.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944202.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614261.1",
"strand": true,
"transcript": "ENST00000944202.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 2688,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944203.1",
"gene_hgnc_id": 18750,
"gene_symbol": "RIN2",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Pro314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614262.1",
"strand": true,
"transcript": "ENST00000944203.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 840,
"aa_ref": "P",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4216,
"cdna_start": 981,
"cds_end": null,
"cds_length": 2523,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944201.1",
"gene_hgnc_id": 18750,
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