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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: 5-177293916-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177293916&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177293916,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000439151.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"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.6548G>C",
"hgvs_p": "p.Cys2183Ser",
"transcript": "NM_022455.5",
"protein_id": "NP_071900.2",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6548,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 6745,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "ENST00000439151.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.6548G>C",
"hgvs_p": "p.Cys2183Ser",
"transcript": "ENST00000439151.7",
"protein_id": "ENSP00000395929.2",
"transcript_support_level": 1,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6548,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 6745,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "NM_022455.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "ENST00000347982.9",
"protein_id": "ENSP00000343209.5",
"transcript_support_level": 1,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5675,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 5842,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.6548G>C",
"hgvs_p": "p.Cys2183Ser",
"transcript": "NM_001409301.1",
"protein_id": "NP_001396230.1",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6548,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 6702,
"cdna_end": null,
"cdna_length": 12999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.6548G>C",
"hgvs_p": "p.Cys2183Ser",
"transcript": "NM_001409302.1",
"protein_id": "NP_001396231.1",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6548,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 6705,
"cdna_end": null,
"cdna_length": 13002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.6548G>C",
"hgvs_p": "p.Cys2183Ser",
"transcript": "NM_001409303.1",
"protein_id": "NP_001396232.1",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2696,
"cds_start": 6548,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 6600,
"cdna_end": null,
"cdna_length": 12897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.6239G>C",
"hgvs_p": "p.Cys2080Ser",
"transcript": "ENST00000687453.1",
"protein_id": "ENSP00000508426.1",
"transcript_support_level": null,
"aa_start": 2080,
"aa_end": null,
"aa_length": 2593,
"cds_start": 6239,
"cds_end": null,
"cds_length": 7782,
"cdna_start": 6257,
"cdna_end": null,
"cdna_length": 8098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.6128G>C",
"hgvs_p": "p.Cys2043Ser",
"transcript": "NM_001409304.1",
"protein_id": "NP_001396233.1",
"transcript_support_level": null,
"aa_start": 2043,
"aa_end": null,
"aa_length": 2556,
"cds_start": 6128,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 6282,
"cdna_end": null,
"cdna_length": 12579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5795G>C",
"hgvs_p": "p.Cys1932Ser",
"transcript": "NM_001409305.1",
"protein_id": "NP_001396234.1",
"transcript_support_level": null,
"aa_start": 1932,
"aa_end": null,
"aa_length": 2445,
"cds_start": 5795,
"cds_end": null,
"cds_length": 7338,
"cdna_start": 6082,
"cdna_end": null,
"cdna_length": 12379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5786G>C",
"hgvs_p": "p.Cys1929Ser",
"transcript": "NM_001409306.1",
"protein_id": "NP_001396235.1",
"transcript_support_level": null,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5786,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6073,
"cdna_end": null,
"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5786G>C",
"hgvs_p": "p.Cys1929Ser",
"transcript": "NM_001409307.1",
"protein_id": "NP_001396236.1",
"transcript_support_level": null,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5786,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6076,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "NM_001365684.2",
"protein_id": "NP_001352613.2",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5675,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 5935,
"cdna_end": null,
"cdna_length": 12232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "NM_001409308.1",
"protein_id": "NP_001396237.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5675,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 5962,
"cdna_end": null,
"cdna_length": 12259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "NM_172349.5",
"protein_id": "NP_758859.2",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5675,
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"cdna_start": 5965,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "ENST00000354179.9",
"protein_id": "ENSP00000346111.5",
"transcript_support_level": 5,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5675,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 5901,
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"cdna_length": 12136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "ENST00000508896.7",
"protein_id": "ENSP00000423372.3",
"transcript_support_level": 3,
"aa_start": 1892,
"aa_end": null,
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"cdna_start": 5930,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "ENST00000686993.1",
"protein_id": "ENSP00000510020.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5675,
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"cdna_start": 5860,
"cdna_end": null,
"cdna_length": 12157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"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.5675G>C",
"hgvs_p": "p.Cys1892Ser",
"transcript": "ENST00000689345.1",
"protein_id": "ENSP00000509711.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2405,
"cds_start": 5675,
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"cdna_start": 5878,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5426G>C",
"hgvs_p": "p.Cys1809Ser",
"transcript": "NM_001409309.1",
"protein_id": "NP_001396238.1",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
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"cds_start": 5426,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Cys397Ser",
"transcript": "ENST00000503056.6",
"protein_id": "ENSP00000424024.2",
"transcript_support_level": 5,
"aa_start": 397,
"aa_end": null,
"aa_length": 910,
"cds_start": 1190,
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"cdna_start": 1485,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Cys397Ser",
"transcript": "ENST00000508029.6",
"protein_id": "ENSP00000425120.2",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 910,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 1649,
"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": 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.6131G>C",
"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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "n.964G>C",
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"transcript": "ENST00000686385.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2809,
"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": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "n.5945G>C",
"hgvs_p": null,
"transcript": "ENST00000688613.1",
"protein_id": null,
"transcript_support_level": null,
"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": 12180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"dbsnp": "rs121908069",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9817637205123901,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.905,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PS1",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000439151.7",
"gene_symbol": "NSD1",
"hgnc_id": 14234,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6548G>C",
"hgvs_p": "p.Cys2183Ser"
}
],
"clinvar_disease": "Sotos syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Sotos syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}