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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: 9-137349428-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137349428&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137349428,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000340951.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "NM_017820.5",
"protein_id": "NP_060290.3",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 876,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "ENST00000340951.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "ENST00000340951.9",
"protein_id": "ENSP00000340474.4",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 876,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "NM_017820.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*792C>T",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"transcript_support_level": 1,
"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": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*792C>T",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"transcript_support_level": 1,
"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": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2210C>T",
"hgvs_p": "p.Thr737Met",
"transcript": "XM_047423542.1",
"protein_id": "XP_047279498.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.1973C>T",
"hgvs_p": "p.Thr658Met",
"transcript": "XM_011518810.2",
"protein_id": "XP_011517112.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1031,
"cds_start": 1973,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met",
"transcript": "XM_047423543.1",
"protein_id": "XP_047279499.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 907,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met",
"transcript": "XM_047423544.1",
"protein_id": "XP_047279500.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 877,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Thr486Met",
"transcript": "XM_024447588.2",
"protein_id": "XP_024303356.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 859,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.1326C>T",
"hgvs_p": "p.Asp442Asp",
"transcript": "XM_047423545.1",
"protein_id": "XP_047279501.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 527,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1837C>T",
"hgvs_p": null,
"transcript": "ENST00000478344.6",
"protein_id": "ENSP00000433010.1",
"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": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.707C>T",
"hgvs_p": null,
"transcript": "ENST00000484392.5",
"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": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.926C>T",
"hgvs_p": null,
"transcript": "ENST00000487745.5",
"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": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1837C>T",
"hgvs_p": null,
"transcript": "ENST00000478344.6",
"protein_id": "ENSP00000433010.1",
"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": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"dbsnp": "rs35097575",
"frequency_reference_population": 0.047729783,
"hom_count_reference_population": 2088,
"allele_count_reference_population": 76375,
"gnomad_exomes_af": 0.048866,
"gnomad_genomes_af": 0.0369281,
"gnomad_exomes_ac": 70751,
"gnomad_genomes_ac": 5624,
"gnomad_exomes_homalt": 1927,
"gnomad_genomes_homalt": 161,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00208321213722229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.1056,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.955,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000340951.9",
"gene_symbol": "EXD3",
"hgnc_id": 26023,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}