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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: 8-38128901-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38128901&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ASH2L",
"hgnc_id": 744,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004674.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.3253,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8617161512374878,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 628,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_004674.5",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343823.11",
"protein_coding": true,
"protein_id": "NP_004665.2",
"strand": true,
"transcript": "NM_004674.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 628,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000343823.11",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004674.5",
"protein_coding": true,
"protein_id": "ENSP00000340896.5",
"strand": true,
"transcript": "ENST00000343823.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000428278.6",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Pro399Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395310.2",
"strand": true,
"transcript": "ENST00000428278.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 501,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000521652.5",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Pro399Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430259.1",
"strand": true,
"transcript": "ENST00000521652.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 637,
"aa_ref": "P",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899871.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1504C>T",
"hgvs_p": "p.Pro502Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569930.1",
"strand": true,
"transcript": "ENST00000899871.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 635,
"aa_ref": "P",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971642.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641701.1",
"strand": true,
"transcript": "ENST00000971642.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 634,
"aa_ref": "P",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899869.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Pro499Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569928.1",
"strand": true,
"transcript": "ENST00000899869.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 634,
"aa_ref": "P",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971636.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Pro499Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641695.1",
"strand": true,
"transcript": "ENST00000971636.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 630,
"aa_ref": "P",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971643.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Pro495Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641702.1",
"strand": true,
"transcript": "ENST00000971643.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 628,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899868.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569927.1",
"strand": true,
"transcript": "ENST00000899868.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 628,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971637.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641696.1",
"strand": true,
"transcript": "ENST00000971637.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971645.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1504C>T",
"hgvs_p": "p.Pro502Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641704.1",
"strand": true,
"transcript": "ENST00000971645.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "P",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971640.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Pro499Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641699.1",
"strand": true,
"transcript": "ENST00000971640.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899873.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569932.1",
"strand": true,
"transcript": "ENST00000899873.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 596,
"aa_ref": "P",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971638.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Pro461Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641697.1",
"strand": true,
"transcript": "ENST00000971638.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899872.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Pro438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569931.1",
"strand": true,
"transcript": "ENST00000899872.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899875.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Pro499Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569934.1",
"strand": true,
"transcript": "ENST00000899875.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971641.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Pro435Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641700.1",
"strand": true,
"transcript": "ENST00000971641.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000899870.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Pro429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569929.1",
"strand": true,
"transcript": "ENST00000899870.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899874.1",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569933.1",
"strand": true,
"transcript": "ENST00000899874.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001105214.2",
"gene_hgnc_id": 744,
"gene_symbol": "ASH2L",
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