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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: 11-72003944-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72003944&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72003944,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006185.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6279C>T",
"hgvs_p": "p.Thr2093Thr",
"transcript": "NM_006185.4",
"protein_id": "NP_006176.2",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2115,
"cds_start": 6279,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6466,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "ENST00000393695.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6279C>T",
"hgvs_p": "p.Thr2093Thr",
"transcript": "ENST00000393695.8",
"protein_id": "ENSP00000377298.4",
"transcript_support_level": 1,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2115,
"cds_start": 6279,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6466,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "NM_006185.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2871C>T",
"hgvs_p": "p.Thr957Thr",
"transcript": "ENST00000351960.10",
"protein_id": "ENSP00000260051.8",
"transcript_support_level": 1,
"aa_start": 957,
"aa_end": null,
"aa_length": 979,
"cds_start": 2871,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2823C>T",
"hgvs_p": "p.Thr941Thr",
"transcript": "ENST00000541584.5",
"protein_id": "ENSP00000440954.1",
"transcript_support_level": 1,
"aa_start": 941,
"aa_end": null,
"aa_length": 963,
"cds_start": 2823,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2825,
"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+1140G>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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6237C>T",
"hgvs_p": "p.Thr2079Thr",
"transcript": "NM_001286561.2",
"protein_id": "NP_001273490.1",
"transcript_support_level": null,
"aa_start": 2079,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6237,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6522,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6237C>T",
"hgvs_p": "p.Thr2079Thr",
"transcript": "ENST00000358965.10",
"protein_id": "ENSP00000351851.6",
"transcript_support_level": 2,
"aa_start": 2079,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6237,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6495,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6237C>T",
"hgvs_p": "p.Thr2079Thr",
"transcript": "ENST00000620566.4",
"protein_id": "ENSP00000478624.1",
"transcript_support_level": 5,
"aa_start": 2079,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6237,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6281,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2871C>T",
"hgvs_p": "p.Thr957Thr",
"transcript": "ENST00000613205.4",
"protein_id": "ENSP00000480172.1",
"transcript_support_level": 5,
"aa_start": 957,
"aa_end": null,
"aa_length": 979,
"cds_start": 2871,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545054.3",
"protein_id": "XP_011543356.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6544,
"cdna_end": null,
"cdna_length": 7276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545055.2",
"protein_id": "XP_011543357.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6520,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545056.3",
"protein_id": "XP_011543358.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6647,
"cdna_end": null,
"cdna_length": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545057.3",
"protein_id": "XP_011543359.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6641,
"cdna_end": null,
"cdna_length": 7373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545058.2",
"protein_id": "XP_011543360.1",
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"aa_start": 2111,
"aa_end": null,
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"cds_start": 6333,
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"cdna_start": 6512,
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"cdna_length": 7244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545059.3",
"protein_id": "XP_011543361.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6785,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545060.3",
"protein_id": "XP_011543362.1",
"transcript_support_level": null,
"aa_start": 2111,
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"cdna_start": 6779,
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"cdna_length": 7511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545062.3",
"protein_id": "XP_011543364.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
"cds_end": null,
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"cdna_start": 6801,
"cdna_end": null,
"cdna_length": 7533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545063.3",
"protein_id": "XP_011543365.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
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"cdna_start": 6439,
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"cdna_length": 7171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_011545064.2",
"protein_id": "XP_011543366.1",
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"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_024448555.2",
"protein_id": "XP_024304323.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
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"cds_start": 6333,
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"cdna_start": 6658,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_047426995.1",
"protein_id": "XP_047282951.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
"cds_end": null,
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"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 7182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.6333C>T",
"hgvs_p": "p.Thr2111Thr",
"transcript": "XM_047426996.1",
"protein_id": "XP_047282952.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6333,
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"cds_length": 6402,
"cdna_start": 6542,
"cdna_end": null,
"cdna_length": 7274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.199,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006185.4",
"gene_symbol": "NUMA1",
"hgnc_id": 8059,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6279C>T",
"hgvs_p": "p.Thr2093Thr"
},
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000343898.9",
"gene_symbol": "IL18BP",
"hgnc_id": 5987,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.*908+1140G>A",
"hgvs_p": null
}
],
"clinvar_disease": "NUMA1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NUMA1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}