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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: 11-108301732-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108301732&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108301732,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000051.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "NM_000051.4",
"protein_id": "NP_000042.3",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5412,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "ENST00000675843.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "ENST00000675843.1",
"protein_id": "ENSP00000501606.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5412,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "NM_000051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "ENST00000452508.7",
"protein_id": "ENSP00000388058.2",
"transcript_support_level": 1,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5744,
"cdna_end": null,
"cdna_length": 13247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.*326G>T",
"hgvs_p": null,
"transcript": "ENST00000527805.6",
"protein_id": "ENSP00000435747.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.*326G>T",
"hgvs_p": null,
"transcript": "ENST00000527805.6",
"protein_id": "ENSP00000435747.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "NM_001351834.2",
"protein_id": "NP_001338763.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5500,
"cdna_end": null,
"cdna_length": 13003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "ENST00000278616.10",
"protein_id": "ENSP00000278616.4",
"transcript_support_level": 5,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5568,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "ENST00000601453.3",
"protein_id": "ENSP00000469471.2",
"transcript_support_level": 3,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 6713,
"cdna_end": null,
"cdna_length": 14216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "ENST00000713844.1",
"protein_id": "ENSP00000519149.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5426,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "XM_005271562.6",
"protein_id": "XP_005271619.2",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5654,
"cdna_end": null,
"cdna_length": 13157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "XM_006718843.5",
"protein_id": "XP_006718906.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 6362,
"cdna_end": null,
"cdna_length": 13865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "XM_011542840.4",
"protein_id": "XP_011541142.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 13953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "XM_017017790.3",
"protein_id": "XP_016873279.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
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"cds_length": 9171,
"cdna_start": 6230,
"cdna_end": null,
"cdna_length": 13733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "XM_047426975.1",
"protein_id": "XP_047282931.1",
"transcript_support_level": null,
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"cdna_start": 6203,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "XM_047426976.1",
"protein_id": "XP_047282932.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 3056,
"cds_start": 5262,
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"cdna_start": 5742,
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"cdna_length": 13245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5097G>T",
"hgvs_p": "p.Lys1699Asn",
"transcript": "XM_011542842.4",
"protein_id": "XP_011541144.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
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"cds_start": 5097,
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"cdna_start": 5247,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5097G>T",
"hgvs_p": "p.Lys1699Asn",
"transcript": "XM_047426977.1",
"protein_id": "XP_047282933.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 3001,
"cds_start": 5097,
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"cdna_start": 6285,
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"cdna_length": 13788,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5097G>T",
"hgvs_p": "p.Lys1699Asn",
"transcript": "XM_047426978.1",
"protein_id": "XP_047282934.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 3001,
"cds_start": 5097,
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"cdna_start": 5335,
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"mane_select": null,
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},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5097G>T",
"hgvs_p": "p.Lys1699Asn",
"transcript": "XM_047426979.1",
"protein_id": "XP_047282935.1",
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},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.5262G>T",
"hgvs_p": "p.Lys1754Asn",
"transcript": "XM_011542843.3",
"protein_id": "XP_011541145.1",
"transcript_support_level": null,
"aa_start": 1754,
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},
{
"aa_ref": "K",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4218G>T",
"hgvs_p": "p.Lys1406Asn",
"transcript": "XM_011542844.4",
"protein_id": "XP_011541146.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 2708,
"cds_start": 4218,
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"cdna_start": 4833,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.1218G>T",
"hgvs_p": "p.Lys406Asn",
"transcript": "XM_006718845.3",
"protein_id": "XP_006718908.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 1708,
"cds_start": 1218,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 8791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 37,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:9",
"phenotype_combined": "Ataxia-telangiectasia syndrome|not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast;Ataxia-telangiectasia syndrome|Malignant tumor of breast|Familial cancer of breast|not specified",
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}
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}