← Back to variant description
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: 2-196001709-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=196001709&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 196001709,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018897.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "NM_018897.3",
"protein_id": "NP_061720.2",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 4024,
"cds_start": 1139,
"cds_end": null,
"cds_length": 12075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312428.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018897.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "ENST00000312428.11",
"protein_id": "ENSP00000311273.6",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 4024,
"cds_start": 1139,
"cds_end": null,
"cds_length": 12075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018897.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312428.11"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "ENST00000410072.5",
"protein_id": "ENSP00000386260.1",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 501,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410072.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1019T>G",
"hgvs_p": "p.Met340Arg",
"transcript": "XM_011511488.4",
"protein_id": "XP_011509790.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 3984,
"cds_start": 1019,
"cds_end": null,
"cds_length": 11955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511488.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Met334Arg",
"transcript": "XM_011511489.3",
"protein_id": "XP_011509791.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 3978,
"cds_start": 1001,
"cds_end": null,
"cds_length": 11937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511489.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "XM_011511490.4",
"protein_id": "XP_011509792.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 3949,
"cds_start": 1139,
"cds_end": null,
"cds_length": 11850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511490.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "XM_017004504.3",
"protein_id": "XP_016859993.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 3933,
"cds_start": 1139,
"cds_end": null,
"cds_length": 11802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004504.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "XM_011511491.4",
"protein_id": "XP_011509793.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 3004,
"cds_start": 1139,
"cds_end": null,
"cds_length": 9015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511491.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "XM_011511492.4",
"protein_id": "XP_011509794.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 2995,
"cds_start": 1139,
"cds_end": null,
"cds_length": 8988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511492.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "XM_011511493.4",
"protein_id": "XP_011509795.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 2942,
"cds_start": 1139,
"cds_end": null,
"cds_length": 8829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511493.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "XM_011511494.4",
"protein_id": "XP_011509796.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 2929,
"cds_start": 1139,
"cds_end": null,
"cds_length": 8790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511494.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg",
"transcript": "XM_011511495.4",
"protein_id": "XP_011509797.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 2812,
"cds_start": 1139,
"cds_end": null,
"cds_length": 8439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511495.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "n.1265T>G",
"hgvs_p": null,
"transcript": "XR_922968.4",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_922968.4"
}
],
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"dbsnp": "rs144390858",
"frequency_reference_population": 0.011149426,
"hom_count_reference_population": 126,
"allele_count_reference_population": 17757,
"gnomad_exomes_af": 0.0113835,
"gnomad_genomes_af": 0.00893561,
"gnomad_exomes_ac": 16396,
"gnomad_genomes_ac": 1361,
"gnomad_exomes_homalt": 121,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011102408170700073,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.323,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.136,
"phylop100way_prediction": "Pathogenic",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018897.3",
"gene_symbol": "DNAH7",
"hgnc_id": 18661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1139T>G",
"hgvs_p": "p.Met380Arg"
}
],
"clinvar_disease": "DNAH7-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|DNAH7-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}