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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: 16-10752638-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10752638&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10752638,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002484.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "NM_002484.4",
"protein_id": "NP_002475.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 320,
"cds_start": 287,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283027.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002484.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "ENST00000283027.10",
"protein_id": "ENSP00000283027.5",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 320,
"cds_start": 287,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002484.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283027.10"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "ENST00000433392.6",
"protein_id": "ENSP00000409654.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 309,
"cds_start": 287,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433392.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "n.310G>C",
"hgvs_p": null,
"transcript": "ENST00000571790.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000571790.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "n.307G>C",
"hgvs_p": null,
"transcript": "ENST00000574137.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574137.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "ENST00000851531.1",
"protein_id": "ENSP00000521590.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 319,
"cds_start": 287,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851531.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.281G>C",
"hgvs_p": "p.Gly94Ala",
"transcript": "ENST00000851530.1",
"protein_id": "ENSP00000521589.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 318,
"cds_start": 281,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851530.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "ENST00000924648.1",
"protein_id": "ENSP00000594707.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 317,
"cds_start": 287,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924648.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "NM_001278506.2",
"protein_id": "NP_001265435.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 309,
"cds_start": 287,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278506.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.281G>C",
"hgvs_p": "p.Gly94Ala",
"transcript": "ENST00000924645.1",
"protein_id": "ENSP00000594704.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 307,
"cds_start": 281,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924645.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "ENST00000924650.1",
"protein_id": "ENSP00000594709.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 306,
"cds_start": 287,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924650.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "ENST00000851532.1",
"protein_id": "ENSP00000521591.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 299,
"cds_start": 287,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851532.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "NM_001323595.2",
"protein_id": "NP_001310524.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 292,
"cds_start": 287,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323595.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Gly61Ala",
"transcript": "ENST00000924647.1",
"protein_id": "ENSP00000594706.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 285,
"cds_start": 182,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924647.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "NM_001323596.2",
"protein_id": "NP_001310525.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 259,
"cds_start": 287,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323596.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Gly47Ala",
"transcript": "NM_001323597.1",
"protein_id": "NP_001310526.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 244,
"cds_start": 140,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323597.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.153G>C",
"hgvs_p": "p.Trp51Cys",
"transcript": "ENST00000924646.1",
"protein_id": "ENSP00000594705.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 234,
"cds_start": 153,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924646.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala",
"transcript": "XM_047434170.1",
"protein_id": "XP_047290126.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 281,
"cds_start": 287,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434170.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.253-3083G>C",
"hgvs_p": null,
"transcript": "ENST00000960379.1",
"protein_id": "ENSP00000630438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.259-4052G>C",
"hgvs_p": null,
"transcript": "ENST00000924644.1",
"protein_id": "ENSP00000594703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.259-3083G>C",
"hgvs_p": null,
"transcript": "NM_001323594.2",
"protein_id": "NP_001310523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323594.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.125-5235G>C",
"hgvs_p": null,
"transcript": "ENST00000960378.1",
"protein_id": "ENSP00000630437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "NUBP1",
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"hgvs_c": "c.259-3083G>C",
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"transcript": "ENST00000574334.5",
"protein_id": "ENSP00000461746.1",
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"biotype": "protein_coding",
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}
],
"gene_symbol": "NUBP1",
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"dbsnp": "rs774042380",
"frequency_reference_population": 0.0000012393923,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84182e-7,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9794982671737671,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.679,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9361,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.257,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002484.4",
"gene_symbol": "NUBP1",
"hgnc_id": 8041,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Gly96Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}