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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: 10-248575-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=248575&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 248575,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006624.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "NM_001370100.5",
"protein_id": "NP_001357029.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "ENST00000381604.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370100.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000381604.9",
"protein_id": "ENSP00000371017.6",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "NM_001370100.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381604.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000397962.8",
"protein_id": "ENSP00000381053.3",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397962.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000558098.4",
"protein_id": "ENSP00000452959.1",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 568,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558098.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1464G>T",
"hgvs_p": "p.Glu488Asp",
"transcript": "ENST00000509513.6",
"protein_id": "ENSP00000424205.2",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 567,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509513.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*1409G>T",
"hgvs_p": null,
"transcript": "ENST00000381584.6",
"protein_id": "ENSP00000370996.2",
"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": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000381584.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*1409G>T",
"hgvs_p": null,
"transcript": "ENST00000381584.6",
"protein_id": "ENSP00000370996.2",
"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": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000381584.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1536G>T",
"hgvs_p": "p.Glu512Asp",
"transcript": "ENST00000972248.1",
"protein_id": "ENSP00000642307.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 625,
"cds_start": 1536,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972248.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Glu504Asp",
"transcript": "ENST00000397955.7",
"protein_id": "ENSP00000381046.3",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 617,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397955.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Glu504Asp",
"transcript": "ENST00000857283.1",
"protein_id": "ENSP00000527342.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 617,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857283.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Glu504Asp",
"transcript": "ENST00000972242.1",
"protein_id": "ENSP00000642301.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 617,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972242.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "NM_001370097.3",
"protein_id": "NP_001357026.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370097.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "NM_001370098.2",
"protein_id": "NP_001357027.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370098.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "NM_001370099.2",
"protein_id": "NP_001357028.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370099.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "NM_001370101.2",
"protein_id": "NP_001357030.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370101.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "NM_001370102.2",
"protein_id": "NP_001357031.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370102.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "NM_006624.7",
"protein_id": "NP_006615.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006624.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000381591.5",
"protein_id": "ENSP00000371003.1",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381591.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000704301.1",
"protein_id": "ENSP00000515825.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704301.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000857249.1",
"protein_id": "ENSP00000527308.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857249.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000857257.1",
"protein_id": "ENSP00000527316.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857257.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000857268.1",
"protein_id": "ENSP00000527327.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 602,
"cds_start": 1467,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
"score": -10,
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"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006624.7",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}