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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: 11-68158787-TTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68158787&ref=TTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68158787,
"ref": "TTC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_017635.5",
"consequences": [
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1557_1558delGA",
"hgvs_p": "p.Asn520fs",
"transcript": "NM_017635.5",
"protein_id": "NP_060105.3",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 885,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304363.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017635.5"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1557_1558delGA",
"hgvs_p": "p.Asn520fs",
"transcript": "ENST00000304363.9",
"protein_id": "ENSP00000305899.4",
"transcript_support_level": 5,
"aa_start": 519,
"aa_end": null,
"aa_length": 885,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017635.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304363.9"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1557_1558delGA",
"hgvs_p": "p.Asn520fs",
"transcript": "ENST00000615954.4",
"protein_id": "ENSP00000484858.1",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 885,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615954.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "n.*765_*766delGA",
"hgvs_p": null,
"transcript": "ENST00000441488.6",
"protein_id": "ENSP00000411146.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441488.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "n.*765_*766delGA",
"hgvs_p": null,
"transcript": "ENST00000441488.6",
"protein_id": "ENSP00000411146.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441488.6"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1557_1558delGA",
"hgvs_p": "p.Asn520fs",
"transcript": "NM_001369426.1",
"protein_id": "NP_001356355.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 885,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369426.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1344_1345delGA",
"hgvs_p": "p.Asn449fs",
"transcript": "ENST00000453170.6",
"protein_id": "ENSP00000406377.2",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 814,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453170.6"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "NM_001300907.1",
"protein_id": "NP_001287836.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300907.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "NM_001369428.1",
"protein_id": "NP_001356357.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369428.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "NM_001369429.1",
"protein_id": "NP_001356358.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369429.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "NM_001369430.1",
"protein_id": "NP_001356359.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369430.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "NM_001369431.1",
"protein_id": "NP_001356360.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369431.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "NM_001369432.1",
"protein_id": "NP_001356361.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369432.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "NM_001369433.1",
"protein_id": "NP_001356362.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369433.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1041_1042delGA",
"hgvs_p": "p.Asn348fs",
"transcript": "ENST00000700523.1",
"protein_id": "ENSP00000515030.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 713,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700523.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.837_838delGA",
"hgvs_p": "p.Asn280fs",
"transcript": "NM_001300908.2",
"protein_id": "NP_001287837.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 645,
"cds_start": 837,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300908.2"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1557_1558delGA",
"hgvs_p": "p.Asn520fs",
"transcript": "XM_005274035.5",
"protein_id": "XP_005274092.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 885,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274035.5"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1557_1558delGA",
"hgvs_p": "p.Asn520fs",
"transcript": "XM_047427071.1",
"protein_id": "XP_047283027.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 885,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427071.1"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1488_1489delGA",
"hgvs_p": "p.Asn497fs",
"transcript": "XM_005274036.5",
"protein_id": "XP_005274093.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 862,
"cds_start": 1488,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274036.5"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1488_1489delGA",
"hgvs_p": "p.Asn497fs",
"transcript": "XM_006718581.2",
"protein_id": "XP_006718644.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 862,
"cds_start": 1488,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718581.2"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1344_1345delGA",
"hgvs_p": "p.Asn449fs",
"transcript": "XM_011545092.4",
"protein_id": "XP_011543394.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 814,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545092.4"
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1275_1276delGA",
"hgvs_p": "p.Asn426fs",
"transcript": "XM_047427072.1",
"protein_id": "XP_047283028.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal dominant 51",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}