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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: 1-1312238-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1312238&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1312238,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001256456.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Ser532Asn",
"transcript": "NM_017871.6",
"protein_id": "NP_060341.2",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435064.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017871.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Ser532Asn",
"transcript": "ENST00000435064.6",
"protein_id": "ENSP00000413493.2",
"transcript_support_level": 1,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017871.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435064.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "n.1983G>A",
"hgvs_p": null,
"transcript": "ENST00000323275.10",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000323275.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "n.2398G>A",
"hgvs_p": null,
"transcript": "ENST00000462432.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "n.463G>A",
"hgvs_p": null,
"transcript": "ENST00000497304.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497304.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1658G>A",
"hgvs_p": "p.Ser553Asn",
"transcript": "ENST00000891837.1",
"protein_id": "ENSP00000561896.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 621,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891837.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Ser538Asn",
"transcript": "NM_001256456.2",
"protein_id": "NP_001243385.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 606,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256456.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Ser538Asn",
"transcript": "ENST00000540437.5",
"protein_id": "ENSP00000445001.1",
"transcript_support_level": 2,
"aa_start": 538,
"aa_end": null,
"aa_length": 606,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540437.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Ser531Asn",
"transcript": "ENST00000931667.1",
"protein_id": "ENSP00000601726.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 599,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931667.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Ser530Asn",
"transcript": "ENST00000941695.1",
"protein_id": "ENSP00000611754.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 598,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941695.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1568G>A",
"hgvs_p": "p.Ser523Asn",
"transcript": "ENST00000891836.1",
"protein_id": "ENSP00000561895.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 591,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891836.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Ser510Asn",
"transcript": "ENST00000450926.6",
"protein_id": "ENSP00000392848.2",
"transcript_support_level": 5,
"aa_start": 510,
"aa_end": null,
"aa_length": 578,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450926.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Ser503Asn",
"transcript": "NM_001256460.2",
"protein_id": "NP_001243389.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 571,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256460.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Ser503Asn",
"transcript": "ENST00000545578.5",
"protein_id": "ENSP00000444672.1",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 571,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545578.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Ser496Asn",
"transcript": "ENST00000931668.1",
"protein_id": "ENSP00000601727.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 564,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931668.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Ser434Asn",
"transcript": "NM_001256462.2",
"protein_id": "NP_001243391.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 502,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256462.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Ser434Asn",
"transcript": "ENST00000411962.5",
"protein_id": "ENSP00000400548.1",
"transcript_support_level": 5,
"aa_start": 434,
"aa_end": null,
"aa_length": 502,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411962.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Ser434Asn",
"transcript": "ENST00000620829.4",
"protein_id": "ENSP00000481821.1",
"transcript_support_level": 2,
"aa_start": 434,
"aa_end": null,
"aa_length": 502,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620829.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "NM_001256463.2",
"protein_id": "NP_001243392.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 499,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256463.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000419704.5",
"protein_id": "ENSP00000404886.1",
"transcript_support_level": 2,
"aa_start": 431,
"aa_end": null,
"aa_length": 499,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419704.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Ser274Asn",
"transcript": "ENST00000421495.6",
"protein_id": "ENSP00000464436.1",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 342,
"cds_start": 821,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421495.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS11",
"gene_hgnc_id": 26052,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Ser592Asn",
"transcript": "XM_011541647.2",
"protein_id": "XP_011539949.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 660,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.09400984644889832,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.965,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256456.2",
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"effects": [
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"inheritance_mode": "AR",
"hgvs_c": "c.1613G>A",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}