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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: 11-72004647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72004647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72004647,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006185.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5999C>T",
"hgvs_p": "p.Thr2000Ile",
"transcript": "NM_006185.4",
"protein_id": "NP_006176.2",
"transcript_support_level": null,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5999,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6186,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "ENST00000393695.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5999C>T",
"hgvs_p": "p.Thr2000Ile",
"transcript": "ENST00000393695.8",
"protein_id": "ENSP00000377298.4",
"transcript_support_level": 1,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5999,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6186,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "NM_006185.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2591C>T",
"hgvs_p": "p.Thr864Ile",
"transcript": "ENST00000351960.10",
"protein_id": "ENSP00000260051.8",
"transcript_support_level": 1,
"aa_start": 864,
"aa_end": null,
"aa_length": 979,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2543C>T",
"hgvs_p": "p.Thr848Ile",
"transcript": "ENST00000541584.5",
"protein_id": "ENSP00000440954.1",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 963,
"cds_start": 2543,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2545,
"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.*909-898G>A",
"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": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5957C>T",
"hgvs_p": "p.Thr1986Ile",
"transcript": "NM_001286561.2",
"protein_id": "NP_001273490.1",
"transcript_support_level": null,
"aa_start": 1986,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5957,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6242,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5957C>T",
"hgvs_p": "p.Thr1986Ile",
"transcript": "ENST00000358965.10",
"protein_id": "ENSP00000351851.6",
"transcript_support_level": 2,
"aa_start": 1986,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5957,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6215,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5957C>T",
"hgvs_p": "p.Thr1986Ile",
"transcript": "ENST00000620566.4",
"protein_id": "ENSP00000478624.1",
"transcript_support_level": 5,
"aa_start": 1986,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5957,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6001,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2591C>T",
"hgvs_p": "p.Thr864Ile",
"transcript": "ENST00000613205.4",
"protein_id": "ENSP00000480172.1",
"transcript_support_level": 5,
"aa_start": 864,
"aa_end": null,
"aa_length": 979,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545054.3",
"protein_id": "XP_011543356.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6264,
"cdna_end": null,
"cdna_length": 7276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545055.2",
"protein_id": "XP_011543357.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6240,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545056.3",
"protein_id": "XP_011543358.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6367,
"cdna_end": null,
"cdna_length": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545057.3",
"protein_id": "XP_011543359.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6361,
"cdna_end": null,
"cdna_length": 7373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545058.2",
"protein_id": "XP_011543360.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 6053,
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"cdna_start": 6232,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545059.3",
"protein_id": "XP_011543361.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6505,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545060.3",
"protein_id": "XP_011543362.1",
"transcript_support_level": null,
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"cds_start": 6053,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545062.3",
"protein_id": "XP_011543364.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
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"cdna_start": 6521,
"cdna_end": null,
"cdna_length": 7533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545063.3",
"protein_id": "XP_011543365.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
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"cdna_start": 6159,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_011545064.2",
"protein_id": "XP_011543366.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_024448555.2",
"protein_id": "XP_024304323.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_047426995.1",
"protein_id": "XP_047282951.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
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"cdna_start": 6170,
"cdna_end": null,
"cdna_length": 7182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6053C>T",
"hgvs_p": "p.Thr2018Ile",
"transcript": "XM_047426996.1",
"protein_id": "XP_047282952.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6053,
"cds_end": null,
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"cdna_start": 6262,
"cdna_end": null,
"cdna_length": 7274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
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"transcript": "ENST00000343898.9",
"gene_symbol": "IL18BP",
"hgnc_id": 5987,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.*909-898G>A",
"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
}