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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: 8-125366837-A-AAGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=125366837&ref=A&alt=AAGGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 125366837,
"ref": "A",
"alt": "AAGGG",
"effect": "frameshift_variant",
"transcript": "ENST00000287437.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "NM_173685.4",
"protein_id": "NP_775956.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": "ENST00000287437.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "ENST00000287437.8",
"protein_id": "ENSP00000287437.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": "NM_173685.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"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": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "NM_001349485.2",
"protein_id": "NP_001336414.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "NM_001349486.2",
"protein_id": "NP_001336415.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"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": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "ENST00000522563.6",
"protein_id": "ENSP00000430668.1",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"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": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.517_520dupAGGG",
"hgvs_p": "p.Ala174fs",
"transcript": "ENST00000517315.1",
"protein_id": "ENSP00000428846.1",
"transcript_support_level": 3,
"aa_start": 174,
"aa_end": null,
"aa_length": 187,
"cds_start": 521,
"cds_end": null,
"cds_length": 564,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.703_706dupAGGG",
"hgvs_p": "p.Ala236fs",
"transcript": "XM_017013330.3",
"protein_id": "XP_016868819.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 249,
"cds_start": 707,
"cds_end": null,
"cds_length": 750,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "XM_011516974.3",
"protein_id": "XP_011515276.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "XM_011516975.3",
"protein_id": "XP_011515277.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "XM_017013331.2",
"protein_id": "XP_016868820.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "XM_024447130.2",
"protein_id": "XP_024302898.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "XM_047421702.1",
"protein_id": "XP_047277658.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "XM_047421703.1",
"protein_id": "XP_047277659.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "EG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs",
"transcript": "XM_047421705.1",
"protein_id": "XP_047277661.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 247,
"cds_start": 701,
"cds_end": null,
"cds_length": 744,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1271,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "n.367_370dupAGGG",
"hgvs_p": null,
"transcript": "ENST00000521460.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 645,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "n.1042_1045dupAGGG",
"hgvs_p": null,
"transcript": "NR_146191.2",
"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": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254431",
"gene_hgnc_id": null,
"hgvs_c": "n.259-8268_259-8265dupCCCT",
"hgvs_p": null,
"transcript": "ENST00000526947.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254431",
"gene_hgnc_id": null,
"hgvs_c": "n.210-8268_210-8265dupCCCT",
"hgvs_p": null,
"transcript": "ENST00000795293.1",
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254431",
"gene_hgnc_id": null,
"hgvs_c": "n.*218_*221dupCCCT",
"hgvs_p": null,
"transcript": "ENST00000795294.1",
"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": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"dbsnp": "rs773917653",
"frequency_reference_population": 0.000006843128,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684313,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.007,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000287437.8",
"gene_symbol": "NSMCE2",
"hgnc_id": 26513,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.697_700dupAGGG",
"hgvs_p": "p.Ala234fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000795293.1",
"gene_symbol": "ENSG00000254431",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.210-8268_210-8265dupCCCT",
"hgvs_p": null
}
],
"clinvar_disease": "Seckel syndrome 10",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Seckel syndrome 10",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}