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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: 5-177283796-A-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177283796&ref=A&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177283796,
"ref": "A",
"alt": "ATT",
"effect": "frameshift_variant",
"transcript": "NM_022455.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6020_6021dupTT",
"hgvs_p": "p.Asp2008fs",
"transcript": "NM_022455.5",
"protein_id": "NP_071900.2",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6022,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439151.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022455.5"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6020_6021dupTT",
"hgvs_p": "p.Asp2008fs",
"transcript": "ENST00000439151.7",
"protein_id": "ENSP00000395929.2",
"transcript_support_level": 1,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6022,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022455.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439151.7"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "ENST00000347982.9",
"protein_id": "ENSP00000343209.5",
"transcript_support_level": 1,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347982.9"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6020_6021dupTT",
"hgvs_p": "p.Asp2008fs",
"transcript": "NM_001409301.1",
"protein_id": "NP_001396230.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6022,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409301.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6020_6021dupTT",
"hgvs_p": "p.Asp2008fs",
"transcript": "NM_001409302.1",
"protein_id": "NP_001396231.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6022,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409302.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6020_6021dupTT",
"hgvs_p": "p.Asp2008fs",
"transcript": "NM_001409303.1",
"protein_id": "NP_001396232.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6022,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409303.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6020_6021dupTT",
"hgvs_p": "p.Asp2008fs",
"transcript": "ENST00000936190.1",
"protein_id": "ENSP00000606249.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6022,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936190.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6020_6021dupTT",
"hgvs_p": "p.Asp2008fs",
"transcript": "ENST00000936191.1",
"protein_id": "ENSP00000606250.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6022,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936191.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5711_5712dupTT",
"hgvs_p": "p.Asp1905fs",
"transcript": "ENST00000687453.1",
"protein_id": "ENSP00000508426.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2593,
"cds_start": 5713,
"cds_end": null,
"cds_length": 7782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687453.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5600_5601dupTT",
"hgvs_p": "p.Asp1868fs",
"transcript": "NM_001409304.1",
"protein_id": "NP_001396233.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2556,
"cds_start": 5602,
"cds_end": null,
"cds_length": 7671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409304.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5267_5268dupTT",
"hgvs_p": "p.Asp1757fs",
"transcript": "NM_001409305.1",
"protein_id": "NP_001396234.1",
"transcript_support_level": null,
"aa_start": 1757,
"aa_end": null,
"aa_length": 2445,
"cds_start": 5269,
"cds_end": null,
"cds_length": 7338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409305.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5258_5259dupTT",
"hgvs_p": "p.Asp1754fs",
"transcript": "NM_001409306.1",
"protein_id": "NP_001396235.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5260,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409306.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5258_5259dupTT",
"hgvs_p": "p.Asp1754fs",
"transcript": "NM_001409307.1",
"protein_id": "NP_001396236.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5260,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409307.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "NM_001365684.2",
"protein_id": "NP_001352613.2",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365684.2"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "NM_001409308.1",
"protein_id": "NP_001396237.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001409308.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "NM_172349.5",
"protein_id": "NP_758859.2",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172349.5"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "ENST00000354179.9",
"protein_id": "ENSP00000346111.5",
"transcript_support_level": 5,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354179.9"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "ENST00000508896.7",
"protein_id": "ENSP00000423372.3",
"transcript_support_level": 3,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508896.7"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "ENST00000686993.1",
"protein_id": "ENSP00000510020.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686993.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5147_5148dupTT",
"hgvs_p": "p.Asp1717fs",
"transcript": "ENST00000689345.1",
"protein_id": "ENSP00000509711.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689345.1"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.662_663dupTT",
"hgvs_p": "p.Asp222fs",
"transcript": "ENST00000503056.6",
"protein_id": "ENSP00000424024.2",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 910,
"cds_start": 664,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503056.6"
},
{
"aa_ref": "D",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.662_663dupTT",
"hgvs_p": "p.Asp222fs",
"transcript": "ENST00000508029.6",
"protein_id": "ENSP00000425120.2",
"transcript_support_level": 2,
"aa_start": 222,
"aa_end": null,
"aa_length": 910,
"cds_start": 664,
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{
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{
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],
"gene_symbol": "NSD1",
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"dbsnp": "rs1554204923",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": null,
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"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.975,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_022455.5",
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"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Asp2008fs"
}
],
"clinvar_disease": "Beckwith-Wiedemann syndrome,Sotos syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Beckwith-Wiedemann syndrome|Sotos syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}