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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: 1-1312256-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1312256&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1312256,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256456.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"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.1577C>T",
"hgvs_p": "p.Thr526Met",
"transcript": "NM_017871.6",
"protein_id": "NP_060341.2",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 600,
"cds_start": 1577,
"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": "T",
"aa_alt": "M",
"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.1577C>T",
"hgvs_p": "p.Thr526Met",
"transcript": "ENST00000435064.6",
"protein_id": "ENSP00000413493.2",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 600,
"cds_start": 1577,
"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.1965C>T",
"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.2380C>T",
"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.445C>T",
"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": "T",
"aa_alt": "M",
"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.1640C>T",
"hgvs_p": "p.Thr547Met",
"transcript": "ENST00000891837.1",
"protein_id": "ENSP00000561896.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 621,
"cds_start": 1640,
"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": "T",
"aa_alt": "M",
"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.1595C>T",
"hgvs_p": "p.Thr532Met",
"transcript": "NM_001256456.2",
"protein_id": "NP_001243385.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 606,
"cds_start": 1595,
"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": "T",
"aa_alt": "M",
"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.1595C>T",
"hgvs_p": "p.Thr532Met",
"transcript": "ENST00000540437.5",
"protein_id": "ENSP00000445001.1",
"transcript_support_level": 2,
"aa_start": 532,
"aa_end": null,
"aa_length": 606,
"cds_start": 1595,
"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": "T",
"aa_alt": "M",
"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.1574C>T",
"hgvs_p": "p.Thr525Met",
"transcript": "ENST00000931667.1",
"protein_id": "ENSP00000601726.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 599,
"cds_start": 1574,
"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": "T",
"aa_alt": "M",
"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.1571C>T",
"hgvs_p": "p.Thr524Met",
"transcript": "ENST00000941695.1",
"protein_id": "ENSP00000611754.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 598,
"cds_start": 1571,
"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": "T",
"aa_alt": "M",
"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.1550C>T",
"hgvs_p": "p.Thr517Met",
"transcript": "ENST00000891836.1",
"protein_id": "ENSP00000561895.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 591,
"cds_start": 1550,
"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": "T",
"aa_alt": "M",
"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.1511C>T",
"hgvs_p": "p.Thr504Met",
"transcript": "ENST00000450926.6",
"protein_id": "ENSP00000392848.2",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 578,
"cds_start": 1511,
"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": "T",
"aa_alt": "M",
"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.1490C>T",
"hgvs_p": "p.Thr497Met",
"transcript": "NM_001256460.2",
"protein_id": "NP_001243389.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 571,
"cds_start": 1490,
"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": "T",
"aa_alt": "M",
"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.1490C>T",
"hgvs_p": "p.Thr497Met",
"transcript": "ENST00000545578.5",
"protein_id": "ENSP00000444672.1",
"transcript_support_level": 2,
"aa_start": 497,
"aa_end": null,
"aa_length": 571,
"cds_start": 1490,
"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": "T",
"aa_alt": "M",
"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.1469C>T",
"hgvs_p": "p.Thr490Met",
"transcript": "ENST00000931668.1",
"protein_id": "ENSP00000601727.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 564,
"cds_start": 1469,
"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": "T",
"aa_alt": "M",
"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.1283C>T",
"hgvs_p": "p.Thr428Met",
"transcript": "NM_001256462.2",
"protein_id": "NP_001243391.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 502,
"cds_start": 1283,
"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": "T",
"aa_alt": "M",
"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.1283C>T",
"hgvs_p": "p.Thr428Met",
"transcript": "ENST00000411962.5",
"protein_id": "ENSP00000400548.1",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 502,
"cds_start": 1283,
"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": "T",
"aa_alt": "M",
"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.1283C>T",
"hgvs_p": "p.Thr428Met",
"transcript": "ENST00000620829.4",
"protein_id": "ENSP00000481821.1",
"transcript_support_level": 2,
"aa_start": 428,
"aa_end": null,
"aa_length": 502,
"cds_start": 1283,
"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": "T",
"aa_alt": "M",
"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.1274C>T",
"hgvs_p": "p.Thr425Met",
"transcript": "NM_001256463.2",
"protein_id": "NP_001243392.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 499,
"cds_start": 1274,
"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": "T",
"aa_alt": "M",
"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.1274C>T",
"hgvs_p": "p.Thr425Met",
"transcript": "ENST00000419704.5",
"protein_id": "ENSP00000404886.1",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 499,
"cds_start": 1274,
"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": "T",
"aa_alt": "M",
"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.803C>T",
"hgvs_p": "p.Thr268Met",
"transcript": "ENST00000421495.6",
"protein_id": "ENSP00000464436.1",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 342,
"cds_start": 803,
"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": "T",
"aa_alt": "M",
"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.1757C>T",
"hgvs_p": "p.Thr586Met",
"transcript": "XM_011541647.2",
"protein_id": "XP_011539949.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 660,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}