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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: 20-419720-CA-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=419720&ref=CA&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RBCK1",
"hgnc_id": 15864,
"hgvs_c": "c.796_797delCAinsAG",
"hgvs_p": "p.Gln266Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001410770.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 510,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031229.4",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.745_746delCAinsAG",
"hgvs_p": "p.Gln249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356286.10",
"protein_coding": true,
"protein_id": "NP_112506.2",
"strand": true,
"transcript": "NM_031229.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 510,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356286.10",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.745_746delCAinsAG",
"hgvs_p": "p.Gln249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031229.4",
"protein_coding": true,
"protein_id": "ENSP00000348632.6",
"strand": true,
"transcript": "ENST00000356286.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 468,
"aa_ref": "Q",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1407,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353660.7",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.619_620delCAinsAG",
"hgvs_p": "p.Gln207Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000254960.5",
"strand": true,
"transcript": "ENST00000353660.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000382181.2",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "n.619_620delCAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000371616.3",
"strand": true,
"transcript": "ENST00000382181.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000382214.7",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "n.745_746delCAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000371649.3",
"strand": true,
"transcript": "ENST00000382214.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 566,
"aa_ref": "Q",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1701,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952173.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.913_914delCAinsAG",
"hgvs_p": "p.Gln305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622232.1",
"strand": true,
"transcript": "ENST00000952173.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 550,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1653,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952176.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.865_866delCAinsAG",
"hgvs_p": "p.Gln289Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622235.1",
"strand": true,
"transcript": "ENST00000952176.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 549,
"aa_ref": "Q",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1650,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878596.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.862_863delCAinsAG",
"hgvs_p": "p.Gln288Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548655.1",
"strand": true,
"transcript": "ENST00000878596.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "Q",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1647,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952178.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.859_860delCAinsAG",
"hgvs_p": "p.Gln287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622237.1",
"strand": true,
"transcript": "ENST00000952178.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 547,
"aa_ref": "Q",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1644,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952172.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.856_857delCAinsAG",
"hgvs_p": "p.Gln286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622231.1",
"strand": true,
"transcript": "ENST00000952172.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 544,
"aa_ref": "Q",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1635,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952177.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.862_863delCAinsAG",
"hgvs_p": "p.Gln288Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622236.1",
"strand": true,
"transcript": "ENST00000952177.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 538,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1617,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932273.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.745_746delCAinsAG",
"hgvs_p": "p.Gln249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602332.1",
"strand": true,
"transcript": "ENST00000932273.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "Q",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1584,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410770.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.796_797delCAinsAG",
"hgvs_p": "p.Gln266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397699.1",
"strand": true,
"transcript": "NM_001410770.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "Q",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1584,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697805.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.796_797delCAinsAG",
"hgvs_p": "p.Gln266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513446.1",
"strand": true,
"transcript": "ENST00000697805.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 523,
"aa_ref": "Q",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1572,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952174.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.796_797delCAinsAG",
"hgvs_p": "p.Gln266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622233.1",
"strand": true,
"transcript": "ENST00000952174.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 515,
"aa_ref": "Q",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1548,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952175.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.796_797delCAinsAG",
"hgvs_p": "p.Gln266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622234.1",
"strand": true,
"transcript": "ENST00000952175.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1530,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878601.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.745_746delCAinsAG",
"hgvs_p": "p.Gln249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548660.1",
"strand": true,
"transcript": "ENST00000878601.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1527,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952170.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.745_746delCAinsAG",
"hgvs_p": "p.Gln249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622229.1",
"strand": true,
"transcript": "ENST00000952170.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 507,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1524,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878595.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.745_746delCAinsAG",
"hgvs_p": "p.Gln249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548654.1",
"strand": true,
"transcript": "ENST00000878595.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1521,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878597.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
"hgvs_c": "c.745_746delCAinsAG",
"hgvs_p": "p.Gln249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548656.1",
"strand": true,
"transcript": "ENST00000878597.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "Q",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1521,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878599.1",
"gene_hgnc_id": 15864,
"gene_symbol": "RBCK1",
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