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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: 17-11962145-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=11962145&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 11962145,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001372.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.13122G>A",
"hgvs_p": "p.Met4374Ile",
"transcript": "NM_001372.4",
"protein_id": "NP_001363.2",
"transcript_support_level": null,
"aa_start": 4374,
"aa_end": null,
"aa_length": 4486,
"cds_start": 13122,
"cds_end": null,
"cds_length": 13461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262442.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.13122G>A",
"hgvs_p": "p.Met4374Ile",
"transcript": "ENST00000262442.9",
"protein_id": "ENSP00000262442.3",
"transcript_support_level": 1,
"aa_start": 4374,
"aa_end": null,
"aa_length": 4486,
"cds_start": 13122,
"cds_end": null,
"cds_length": 13461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262442.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Met686Ile",
"transcript": "ENST00000608377.5",
"protein_id": "ENSP00000476951.1",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 798,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608377.5"
},
{
"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": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "n.2585G>A",
"hgvs_p": null,
"transcript": "ENST00000396001.6",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000396001.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.12894G>A",
"hgvs_p": "p.Met4298Ile",
"transcript": "ENST00000454412.6",
"protein_id": "ENSP00000414874.2",
"transcript_support_level": 5,
"aa_start": 4298,
"aa_end": null,
"aa_length": 4410,
"cds_start": 12894,
"cds_end": null,
"cds_length": 13233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454412.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Met686Ile",
"transcript": "NM_004662.2",
"protein_id": "NP_004653.2",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 798,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004662.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.13167G>A",
"hgvs_p": "p.Met4389Ile",
"transcript": "XM_011523703.3",
"protein_id": "XP_011522005.1",
"transcript_support_level": null,
"aa_start": 4389,
"aa_end": null,
"aa_length": 4501,
"cds_start": 13167,
"cds_end": null,
"cds_length": 13506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523703.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.13050G>A",
"hgvs_p": "p.Met4350Ile",
"transcript": "XM_017024292.3",
"protein_id": "XP_016879781.1",
"transcript_support_level": null,
"aa_start": 4350,
"aa_end": null,
"aa_length": 4462,
"cds_start": 13050,
"cds_end": null,
"cds_length": 13389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024292.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.11049G>A",
"hgvs_p": "p.Met3683Ile",
"transcript": "XM_017024293.2",
"protein_id": "XP_016879782.1",
"transcript_support_level": null,
"aa_start": 3683,
"aa_end": null,
"aa_length": 3795,
"cds_start": 11049,
"cds_end": null,
"cds_length": 11388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024293.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266368",
"gene_hgnc_id": null,
"hgvs_c": "n.348-8141C>T",
"hgvs_p": null,
"transcript": "ENST00000580270.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000580270.1"
}
],
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"dbsnp": "rs1990236",
"frequency_reference_population": 0.18216279,
"hom_count_reference_population": 27520,
"allele_count_reference_population": 293998,
"gnomad_exomes_af": 0.183084,
"gnomad_genomes_af": 0.173304,
"gnomad_exomes_ac": 267642,
"gnomad_genomes_ac": 26356,
"gnomad_exomes_homalt": 25125,
"gnomad_genomes_homalt": 2395,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001670747995376587,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.6059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.826,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": "NM_001372.4",
"gene_symbol": "DNAH9",
"hgnc_id": 2953,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.13122G>A",
"hgvs_p": "p.Met4374Ile"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000580270.1",
"gene_symbol": "ENSG00000266368",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.348-8141C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}