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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: 11-72004080-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72004080&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72004080,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006185.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6143T>C",
"hgvs_p": "p.Met2048Thr",
"transcript": "NM_006185.4",
"protein_id": "NP_006176.2",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2115,
"cds_start": 6143,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6330,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "ENST00000393695.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6143T>C",
"hgvs_p": "p.Met2048Thr",
"transcript": "ENST00000393695.8",
"protein_id": "ENSP00000377298.4",
"transcript_support_level": 1,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2115,
"cds_start": 6143,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6330,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "NM_006185.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2735T>C",
"hgvs_p": "p.Met912Thr",
"transcript": "ENST00000351960.10",
"protein_id": "ENSP00000260051.8",
"transcript_support_level": 1,
"aa_start": 912,
"aa_end": null,
"aa_length": 979,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2907,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2687T>C",
"hgvs_p": "p.Met896Thr",
"transcript": "ENST00000541584.5",
"protein_id": "ENSP00000440954.1",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 963,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*908+1276A>G",
"hgvs_p": null,
"transcript": "ENST00000343898.9",
"protein_id": "ENSP00000343309.5",
"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": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6101T>C",
"hgvs_p": "p.Met2034Thr",
"transcript": "NM_001286561.2",
"protein_id": "NP_001273490.1",
"transcript_support_level": null,
"aa_start": 2034,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6101,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6386,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6101T>C",
"hgvs_p": "p.Met2034Thr",
"transcript": "ENST00000358965.10",
"protein_id": "ENSP00000351851.6",
"transcript_support_level": 2,
"aa_start": 2034,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6101,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6359,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6101T>C",
"hgvs_p": "p.Met2034Thr",
"transcript": "ENST00000620566.4",
"protein_id": "ENSP00000478624.1",
"transcript_support_level": 5,
"aa_start": 2034,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6101,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6145,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2735T>C",
"hgvs_p": "p.Met912Thr",
"transcript": "ENST00000613205.4",
"protein_id": "ENSP00000480172.1",
"transcript_support_level": 5,
"aa_start": 912,
"aa_end": null,
"aa_length": 979,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3073,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545054.3",
"protein_id": "XP_011543356.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6197,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6408,
"cdna_end": null,
"cdna_length": 7276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545055.2",
"protein_id": "XP_011543357.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6197,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6384,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545056.3",
"protein_id": "XP_011543358.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6197,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6511,
"cdna_end": null,
"cdna_length": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545057.3",
"protein_id": "XP_011543359.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6197,
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"cds_length": 6402,
"cdna_start": 6505,
"cdna_end": null,
"cdna_length": 7373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545058.2",
"protein_id": "XP_011543360.1",
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"cdna_start": 6376,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545059.3",
"protein_id": "XP_011543361.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6197,
"cds_end": null,
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"cdna_start": 6649,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545060.3",
"protein_id": "XP_011543362.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545062.3",
"protein_id": "XP_011543364.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6197,
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"cdna_start": 6665,
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"cdna_length": 7533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545063.3",
"protein_id": "XP_011543365.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6197,
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"cdna_start": 6303,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_011545064.2",
"protein_id": "XP_011543366.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_024448555.2",
"protein_id": "XP_024304323.1",
"transcript_support_level": null,
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},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_047426995.1",
"protein_id": "XP_047282951.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
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"cdna_start": 6314,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6197T>C",
"hgvs_p": "p.Met2066Thr",
"transcript": "XM_047426996.1",
"protein_id": "XP_047282952.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
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"cds_start": 6197,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
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"hgvs_p": "p.Met2048Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000343898.9",
"gene_symbol": "IL18BP",
"hgnc_id": 5987,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.*908+1276A>G",
"hgvs_p": null
}
],
"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
}