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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: 5-171410541-C-CTGCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=171410541&ref=C&alt=CTGCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 171410541,
"ref": "C",
"alt": "CTGCA",
"effect": "frameshift_variant",
"transcript": "ENST00000296930.10",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.863_864insCATG",
"hgvs_p": "p.Trp288fs",
"transcript": "NM_002520.7",
"protein_id": "NP_002511.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 294,
"cds_start": 864,
"cds_end": null,
"cds_length": 885,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": "ENST00000296930.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.863_864insCATG",
"hgvs_p": "p.Trp288fs",
"transcript": "ENST00000296930.10",
"protein_id": "ENSP00000296930.5",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 294,
"cds_start": 864,
"cds_end": null,
"cds_length": 885,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": "NM_002520.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.863_864insCATG",
"hgvs_p": "p.Trp288fs",
"transcript": "ENST00000517671.5",
"protein_id": "ENSP00000428755.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 294,
"cds_start": 864,
"cds_end": null,
"cds_length": 885,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.776_777insCATG",
"hgvs_p": "p.Trp259fs",
"transcript": "ENST00000351986.10",
"protein_id": "ENSP00000341168.6",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 265,
"cds_start": 777,
"cds_end": null,
"cds_length": 798,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.950_951insCATG",
"hgvs_p": "p.Trp317fs",
"transcript": "ENST00000676589.1",
"protein_id": "ENSP00000503283.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 323,
"cds_start": 951,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.896_897insCATG",
"hgvs_p": "p.Trp299fs",
"transcript": "ENST00000677357.1",
"protein_id": "ENSP00000504740.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 305,
"cds_start": 897,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.863_864insCATG",
"hgvs_p": "p.Trp288fs",
"transcript": "NM_001355006.2",
"protein_id": "NP_001341935.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 294,
"cds_start": 864,
"cds_end": null,
"cds_length": 885,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.776_777insCATG",
"hgvs_p": "p.Trp259fs",
"transcript": "NM_199185.4",
"protein_id": "NP_954654.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 265,
"cds_start": 777,
"cds_end": null,
"cds_length": 798,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.671_672insCATG",
"hgvs_p": "p.Trp224fs",
"transcript": "NM_001355007.2",
"protein_id": "NP_001341936.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 230,
"cds_start": 672,
"cds_end": null,
"cds_length": 693,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.671_672insCATG",
"hgvs_p": "p.Trp224fs",
"transcript": "ENST00000521672.6",
"protein_id": "ENSP00000429485.2",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 230,
"cds_start": 672,
"cds_end": null,
"cds_length": 693,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.671_672insCATG",
"hgvs_p": "p.Trp224fs",
"transcript": "ENST00000677325.1",
"protein_id": "ENSP00000503781.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 230,
"cds_start": 672,
"cds_end": null,
"cds_length": 693,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.584_585insCATG",
"hgvs_p": "p.Trp195fs",
"transcript": "ENST00000677907.1",
"protein_id": "ENSP00000504308.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 201,
"cds_start": 585,
"cds_end": null,
"cds_length": 606,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.482_483insCATG",
"hgvs_p": "p.Trp161fs",
"transcript": "NM_001355010.2",
"protein_id": "NP_001341939.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 167,
"cds_start": 483,
"cds_end": null,
"cds_length": 504,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "CM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.350_351insCATG",
"hgvs_p": "p.Trp117fs",
"transcript": "ENST00000677297.1",
"protein_id": "ENSP00000504016.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
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"cds_start": 351,
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"cdna_start": 543,
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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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.1057_1058insCATG",
"hgvs_p": null,
"transcript": "ENST00000518587.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1382,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.1241_1242insCATG",
"hgvs_p": null,
"transcript": "ENST00000521260.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.299_300insCATG",
"hgvs_p": null,
"transcript": "ENST00000524204.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.1609_1610insCATG",
"hgvs_p": null,
"transcript": "ENST00000676504.1",
"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": 1936,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.*1610_*1611insCATG",
"hgvs_p": null,
"transcript": "ENST00000676613.1",
"protein_id": "ENSP00000503767.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.3280_3281insCATG",
"hgvs_p": null,
"transcript": "ENST00000676625.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.2288_2289insCATG",
"hgvs_p": null,
"transcript": "ENST00000677467.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2600,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.2181_2182insCATG",
"hgvs_p": null,
"transcript": "ENST00000677600.1",
"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": 2506,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.2286_2287insCATG",
"hgvs_p": null,
"transcript": "ENST00000677672.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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{
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acute myeloid leukemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}