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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: 5-177269703-A-ATGAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177269703&ref=A&alt=ATGAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177269703,
"ref": "A",
"alt": "ATGAC",
"effect": "frameshift_variant,stop_gained",
"transcript": "ENST00000439151.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5407_5410dupGACT",
"hgvs_p": "p.Tyr1804fs",
"transcript": "NM_022455.5",
"protein_id": "NP_071900.2",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5411,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5608,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "ENST00000439151.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5407_5410dupGACT",
"hgvs_p": "p.Tyr1804fs",
"transcript": "ENST00000439151.7",
"protein_id": "ENSP00000395929.2",
"transcript_support_level": 1,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5411,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5608,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "NM_022455.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "ENST00000347982.9",
"protein_id": "ENSP00000343209.5",
"transcript_support_level": 1,
"aa_start": 1513,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4538,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 4705,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5407_5410dupGACT",
"hgvs_p": "p.Tyr1804fs",
"transcript": "NM_001409301.1",
"protein_id": "NP_001396230.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5411,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5565,
"cdna_end": null,
"cdna_length": 12999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5407_5410dupGACT",
"hgvs_p": "p.Tyr1804fs",
"transcript": "NM_001409302.1",
"protein_id": "NP_001396231.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5411,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5568,
"cdna_end": null,
"cdna_length": 13002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5407_5410dupGACT",
"hgvs_p": "p.Tyr1804fs",
"transcript": "NM_001409303.1",
"protein_id": "NP_001396232.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5411,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5463,
"cdna_end": null,
"cdna_length": 12897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5098_5101dupGACT",
"hgvs_p": "p.Tyr1701fs",
"transcript": "ENST00000687453.1",
"protein_id": "ENSP00000508426.1",
"transcript_support_level": null,
"aa_start": 1701,
"aa_end": null,
"aa_length": 2593,
"cds_start": 5102,
"cds_end": null,
"cds_length": 7782,
"cdna_start": 5120,
"cdna_end": null,
"cdna_length": 8098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4987_4990dupGACT",
"hgvs_p": "p.Tyr1664fs",
"transcript": "NM_001409304.1",
"protein_id": "NP_001396233.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 2556,
"cds_start": 4991,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 5145,
"cdna_end": null,
"cdna_length": 12579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4654_4657dupGACT",
"hgvs_p": "p.Tyr1553fs",
"transcript": "NM_001409305.1",
"protein_id": "NP_001396234.1",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 2445,
"cds_start": 4658,
"cds_end": null,
"cds_length": 7338,
"cdna_start": 4945,
"cdna_end": null,
"cdna_length": 12379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4645_4648dupGACT",
"hgvs_p": "p.Tyr1550fs",
"transcript": "NM_001409306.1",
"protein_id": "NP_001396235.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 2442,
"cds_start": 4649,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 4936,
"cdna_end": null,
"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4645_4648dupGACT",
"hgvs_p": "p.Tyr1550fs",
"transcript": "NM_001409307.1",
"protein_id": "NP_001396236.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 2442,
"cds_start": 4649,
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"cds_length": 7329,
"cdna_start": 4939,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "NM_001365684.2",
"protein_id": "NP_001352613.2",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4538,
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"cdna_start": 4798,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "NM_001409308.1",
"protein_id": "NP_001396237.1",
"transcript_support_level": null,
"aa_start": 1513,
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"cds_start": 4538,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"stop_gained"
],
"exon_rank": 17,
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"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "NM_172349.5",
"protein_id": "NP_758859.2",
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"aa_length": 2405,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "ENST00000354179.9",
"protein_id": "ENSP00000346111.5",
"transcript_support_level": 5,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"stop_gained"
],
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"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "ENST00000508896.7",
"protein_id": "ENSP00000423372.3",
"transcript_support_level": 3,
"aa_start": 1513,
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"cds_start": 4538,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "ENST00000686993.1",
"protein_id": "ENSP00000510020.1",
"transcript_support_level": null,
"aa_start": 1513,
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"cds_start": 4538,
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"cdna_start": 4723,
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"cdna_length": 12157,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "ENST00000689345.1",
"protein_id": "ENSP00000509711.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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"stop_gained"
],
"exon_rank": 17,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "NSD1",
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"hgvs_c": "c.4534_4537dupGACT",
"hgvs_p": "p.Tyr1513fs",
"transcript": "NM_001409309.1",
"protein_id": "NP_001396238.1",
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"aa_start": 1513,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.49_52dupGACT",
"hgvs_p": "p.Tyr18fs",
"transcript": "ENST00000503056.6",
"protein_id": "ENSP00000424024.2",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.49_52dupGACT",
"hgvs_p": "p.Tyr18fs",
"transcript": "ENST00000508029.6",
"protein_id": "ENSP00000425120.2",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 910,
"cds_start": 53,
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"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3192,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "n.404_407dupGACT",
"hgvs_p": null,
"transcript": "ENST00000515735.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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}
],
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{
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"verdict": "Pathogenic",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Sotos syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}