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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: 5-177294789-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177294789&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177294789,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000439151.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.7421A>G",
"hgvs_p": "p.Gln2474Arg",
"transcript": "NM_022455.5",
"protein_id": "NP_071900.2",
"transcript_support_level": null,
"aa_start": 2474,
"aa_end": null,
"aa_length": 2696,
"cds_start": 7421,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 7618,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "ENST00000439151.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.7421A>G",
"hgvs_p": "p.Gln2474Arg",
"transcript": "ENST00000439151.7",
"protein_id": "ENSP00000395929.2",
"transcript_support_level": 1,
"aa_start": 2474,
"aa_end": null,
"aa_length": 2696,
"cds_start": 7421,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 7618,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "NM_022455.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "ENST00000347982.9",
"protein_id": "ENSP00000343209.5",
"transcript_support_level": 1,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2405,
"cds_start": 6548,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 6715,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.7421A>G",
"hgvs_p": "p.Gln2474Arg",
"transcript": "NM_001409301.1",
"protein_id": "NP_001396230.1",
"transcript_support_level": null,
"aa_start": 2474,
"aa_end": null,
"aa_length": 2696,
"cds_start": 7421,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 7575,
"cdna_end": null,
"cdna_length": 12999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.7421A>G",
"hgvs_p": "p.Gln2474Arg",
"transcript": "NM_001409302.1",
"protein_id": "NP_001396231.1",
"transcript_support_level": null,
"aa_start": 2474,
"aa_end": null,
"aa_length": 2696,
"cds_start": 7421,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 7578,
"cdna_end": null,
"cdna_length": 13002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.7421A>G",
"hgvs_p": "p.Gln2474Arg",
"transcript": "NM_001409303.1",
"protein_id": "NP_001396232.1",
"transcript_support_level": null,
"aa_start": 2474,
"aa_end": null,
"aa_length": 2696,
"cds_start": 7421,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 7473,
"cdna_end": null,
"cdna_length": 12897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.7112A>G",
"hgvs_p": "p.Gln2371Arg",
"transcript": "ENST00000687453.1",
"protein_id": "ENSP00000508426.1",
"transcript_support_level": null,
"aa_start": 2371,
"aa_end": null,
"aa_length": 2593,
"cds_start": 7112,
"cds_end": null,
"cds_length": 7782,
"cdna_start": 7130,
"cdna_end": null,
"cdna_length": 8098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.7001A>G",
"hgvs_p": "p.Gln2334Arg",
"transcript": "NM_001409304.1",
"protein_id": "NP_001396233.1",
"transcript_support_level": null,
"aa_start": 2334,
"aa_end": null,
"aa_length": 2556,
"cds_start": 7001,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 7155,
"cdna_end": null,
"cdna_length": 12579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6668A>G",
"hgvs_p": "p.Gln2223Arg",
"transcript": "NM_001409305.1",
"protein_id": "NP_001396234.1",
"transcript_support_level": null,
"aa_start": 2223,
"aa_end": null,
"aa_length": 2445,
"cds_start": 6668,
"cds_end": null,
"cds_length": 7338,
"cdna_start": 6955,
"cdna_end": null,
"cdna_length": 12379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6659A>G",
"hgvs_p": "p.Gln2220Arg",
"transcript": "NM_001409306.1",
"protein_id": "NP_001396235.1",
"transcript_support_level": null,
"aa_start": 2220,
"aa_end": null,
"aa_length": 2442,
"cds_start": 6659,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6946,
"cdna_end": null,
"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6659A>G",
"hgvs_p": "p.Gln2220Arg",
"transcript": "NM_001409307.1",
"protein_id": "NP_001396236.1",
"transcript_support_level": null,
"aa_start": 2220,
"aa_end": null,
"aa_length": 2442,
"cds_start": 6659,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6949,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "NM_001365684.2",
"protein_id": "NP_001352613.2",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2405,
"cds_start": 6548,
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"cdna_start": 6808,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "NM_001409308.1",
"protein_id": "NP_001396237.1",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2405,
"cds_start": 6548,
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"cdna_start": 6835,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "NM_172349.5",
"protein_id": "NP_758859.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "ENST00000354179.9",
"protein_id": "ENSP00000346111.5",
"transcript_support_level": 5,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2405,
"cds_start": 6548,
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"cdna_start": 6774,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "ENST00000508896.7",
"protein_id": "ENSP00000423372.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "ENST00000686993.1",
"protein_id": "ENSP00000510020.1",
"transcript_support_level": null,
"aa_start": 2183,
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"aa_length": 2405,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6548A>G",
"hgvs_p": "p.Gln2183Arg",
"transcript": "ENST00000689345.1",
"protein_id": "ENSP00000509711.1",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2405,
"cds_start": 6548,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.6299A>G",
"hgvs_p": "p.Gln2100Arg",
"transcript": "NM_001409309.1",
"protein_id": "NP_001396238.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Gln688Arg",
"transcript": "ENST00000503056.6",
"protein_id": "ENSP00000424024.2",
"transcript_support_level": 5,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Gln688Arg",
"transcript": "ENST00000508029.6",
"protein_id": "ENSP00000425120.2",
"transcript_support_level": 2,
"aa_start": 688,
"aa_end": null,
"aa_length": 910,
"cds_start": 2063,
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"cdna_start": 2522,
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"mane_select": null,
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"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": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "n.7004A>G",
"hgvs_p": null,
"transcript": "ENST00000685206.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 7863,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "NSD1",
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{
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}
],
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"computational_score_selected": 0.08335638046264648,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000439151.7",
"gene_symbol": "NSD1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Gln2474Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}