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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: 8-38138822-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38138822&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38138822,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000343823.11",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Ile576Leu",
"transcript": "NM_004674.5",
"protein_id": "NP_004665.2",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 628,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": "ENST00000343823.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Ile576Leu",
"transcript": "ENST00000343823.11",
"protein_id": "ENSP00000340896.5",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 628,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": "NM_004674.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1444A>C",
"hgvs_p": "p.Ile482Leu",
"transcript": "ENST00000428278.6",
"protein_id": "ENSP00000395310.2",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 534,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1345A>C",
"hgvs_p": "p.Ile449Leu",
"transcript": "ENST00000521652.5",
"protein_id": "ENSP00000430259.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 501,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1444A>C",
"hgvs_p": "p.Ile482Leu",
"transcript": "NM_001105214.2",
"protein_id": "NP_001098684.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 534,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1345A>C",
"hgvs_p": "p.Ile449Leu",
"transcript": "NM_001261832.1",
"protein_id": "NP_001248761.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 501,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1309A>C",
"hgvs_p": "p.Ile437Leu",
"transcript": "NM_001282272.1",
"protein_id": "NP_001269201.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 489,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1309A>C",
"hgvs_p": "p.Ile437Leu",
"transcript": "ENST00000545394.2",
"protein_id": "ENSP00000443606.1",
"transcript_support_level": 2,
"aa_start": 437,
"aa_end": null,
"aa_length": 489,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.511A>C",
"hgvs_p": "p.Ile171Leu",
"transcript": "ENST00000524247.5",
"protein_id": "ENSP00000429387.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 190,
"cds_start": 511,
"cds_end": null,
"cds_length": 574,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.109A>C",
"hgvs_p": "p.Ile37Leu",
"transcript": "ENST00000521808.5",
"protein_id": "ENSP00000427839.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 89,
"cds_start": 109,
"cds_end": null,
"cds_length": 270,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1744A>C",
"hgvs_p": "p.Ile582Leu",
"transcript": "XM_005273682.2",
"protein_id": "XP_005273739.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 634,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1645A>C",
"hgvs_p": "p.Ile549Leu",
"transcript": "XM_006716412.2",
"protein_id": "XP_006716475.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 601,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1627A>C",
"hgvs_p": "p.Ile543Leu",
"transcript": "XM_006716413.4",
"protein_id": "XP_006716476.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 595,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1462A>C",
"hgvs_p": "p.Ile488Leu",
"transcript": "XM_005273683.2",
"protein_id": "XP_005273740.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 540,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3073,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "n.*1214A>C",
"hgvs_p": null,
"transcript": "ENST00000517496.5",
"protein_id": "ENSP00000430889.1",
"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": 2194,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "n.1328A>C",
"hgvs_p": null,
"transcript": "ENST00000520079.1",
"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": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "n.*1214A>C",
"hgvs_p": null,
"transcript": "ENST00000517496.5",
"protein_id": "ENSP00000430889.1",
"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": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"dbsnp": "rs1060499744",
"frequency_reference_population": 6.841368e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84137e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4055708646774292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.1328,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.641,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000343823.11",
"gene_symbol": "ASH2L",
"hgnc_id": 744,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Ile576Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}